Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1314212G>A , CM000678.2:g.1314212G>A	GRCh38
NC_000016.9:g.1364213G>A , CM000678.1:g.1364213G>A	GRCh37
NC_000016.8:g.1304214G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000325437.10:c.67-81G>A	ENSP00000324897.5:n.67-81G>A
ENST00000355803.9:c.67-81G>A	ENSP00000348056.4:n.67-81G>A
ENST00000397515.7:c.67-81G>A	ENSP00000380650.2:n.67-81G>A
ENST00000402301.6:n.103-81G>A
ENST00000403747.7:c.67-81G>A	ENSP00000385009.2:n.67-81G>A
ENST00000473256.7:n.216-81G>A
ENST00000562470.4:c.67-81G>A	ENSP00000490882.2:n.67-81G>A
ENST00000562482.2:n.210-81G>A
ENST00000566159.2:n.510-81G>A
ENST00000566587.6:c.67-81G>A	ENSP00000457064.1:n.67-81G>A
ENST00000566775.3:c.67-81G>A	ENSP00000455252.2:n.67-81G>A
ENST00000567074.7:c.67-81G>A	ENSP00000455893.2:n.67-81G>A
ENST00000567383.7:c.67-81G>A	ENSP00000456188.2:n.67-81G>A
ENST00000568209.6:c.66+116G>A	ENSP00000519216.1:n.66+116G>A
ENST00000568288.6:c.-39-81G>A	ENSP00000519215.1:n.-39-81G>A
ENST00000677314.2:c.67-81G>A	ENSP00000503670.1:n.67-81G>A
ENST00000678584.2:c.67-81G>A	ENSP00000518665.1:n.67-81G>A
ENST00000679137.2:n.4431-81G>A
ENST00000711294.1:c.-39-81G>A	ENSP00000518667.1:n.-39-81G>A
ENST00000711295.1:c.67-81G>A	ENSP00000518668.1:n.67-81G>A
ENST00000711296.1:c.67-81G>A	ENSP00000518669.1:n.67-81G>A
ENST00000711297.1:c.67-81G>A	ENSP00000518670.1:n.67-81G>A
ENST00000711298.1:c.67-81G>A	ENSP00000518671.1:n.67-81G>A
ENST00000711299.1:c.67-81G>A	ENSP00000518672.1:n.67-81G>A
ENST00000711300.1:c.67-81G>A	ENSP00000518673.1:n.67-81G>A
ENST00000711301.1:c.67-81G>A	ENSP00000518674.1:n.67-81G>A
ENST00000711302.1:c.67-81G>A	ENSP00000518675.1:n.67-81G>A
ENST00000711303.1:c.67-81G>A	ENSP00000518676.1:n.67-81G>A
ENST00000711304.1:n.136+4439G>A
ENST00000711305.1:c.-39-81G>A	ENSP00000518677.1:n.-39-81G>A
ENST00000711306.1:c.67-81G>A	ENSP00000518678.1:n.67-81G>A
ENST00000711307.1:c.67-81G>A	ENSP00000518679.1:n.67-81G>A
ENST00000711308.1:c.-33-1442G>A	ENSP00000518680.1:n.-33-1442G>A
ENST00000711309.1:c.67-81G>A	ENSP00000518681.1:n.67-81G>A
ENST00000711310.1:c.67-81G>A	ENSP00000518682.1:n.67-81G>A
ENST00000711311.1:c.67-81G>A	ENSP00000518683.1:n.67-81G>A
ENST00000711312.1:c.223-81G>A	ENSP00000518684.1:n.223-81G>A
ENST00000711313.1:n.120-81G>A
ENST00000711314.1:n.311-81G>A
ENST00000711315.1:n.398-81G>A
ENST00000711316.1:c.67-81G>A	ENSP00000518685.1:n.67-81G>A
ENST00000711317.1:c.67-81G>A	ENSP00000518686.1:n.67-81G>A
ENST00000711319.1:c.67-81G>A	ENSP00000518687.1:n.67-81G>A
ENST00000711320.1:n.329G>A
ENST00000711321.1:n.215-81G>A
ENST00000711322.1:n.214-81G>A
ENST00000711323.1:c.67-81G>A	ENSP00000518688.1:n.67-81G>A
ENST00000711324.1:c.67-81G>A	ENSP00000518689.1:n.67-81G>A
ENST00000711330.1:c.67-81G>A	ENSP00000518694.1:n.67-81G>A
ENST00000711331.1:c.67-81G>A	ENSP00000518695.1:n.67-81G>A
ENST00000711332.1:c.67-81G>A	ENSP00000518696.1:n.67-81G>A
ENST00000711333.1:c.67-81G>A	ENSP00000518697.1:n.67-81G>A
ENST00000711334.1:c.67-81G>A	ENSP00000518698.1:n.67-81G>A
ENST00000711335.1:c.67-81G>A	ENSP00000518699.1:n.67-81G>A
ENST00000711336.1:c.67-81G>A	ENSP00000518700.1:n.67-81G>A
ENST00000711337.1:c.67-81G>A	ENSP00000518701.1:n.67-81G>A
ENST00000711338.1:c.67-81G>A	ENSP00000518702.1:n.67-81G>A
ENST00000711339.1:c.67-81G>A	ENSP00000518703.1:n.67-81G>A
ENST00000711340.1:c.67-81G>A	ENSP00000518704.1:n.67-81G>A
ENST00000711341.1:c.67-81G>A	ENSP00000518705.1:n.67-81G>A
ENST00000711343.1:c.67-81G>A	ENSP00000518706.1:n.67-81G>A
ENST00000711344.1:c.67-81G>A	ENSP00000518707.1:n.67-81G>A
ENST00000711345.1:c.67-81G>A	ENSP00000518708.1:n.67-81G>A
ENST00000711346.1:c.67-81G>A	ENSP00000518709.1:n.67-81G>A
ENST00000711347.1:c.67-81G>A	ENSP00000518710.1:n.67-81G>A
ENST00000711348.1:c.67-81G>A	ENSP00000518711.1:n.67-81G>A
ENST00000711349.1:c.67-81G>A	ENSP00000518712.1:n.67-81G>A
ENST00000711350.1:c.67-81G>A	ENSP00000518713.1:n.67-81G>A
ENST00000711351.1:c.67-81G>A	ENSP00000518714.1:n.67-81G>A
ENST00000711353.1:n.468-81G>A
ENST00000713916.1:c.67-81G>A	ENSP00000519217.1:n.67-81G>A
ENST00000713917.1:n.447-81G>A
ENST00000713920.1:c.67-81G>A	ENSP00000518663.1:n.67-81G>A
ENST00000713921.1:c.67-81G>A	ENSP00000518664.1:n.67-81G>A
ENST00000713922.1:c.67-81G>A	ENSP00000518666.1:n.67-81G>A
ENST00000397514.8:c.67-81G>A MANE Select	ENSP00000380649.3:n.67-81G>A
ENST00000406620.6:c.67-81G>A	ENSP00000384568.1:n.67-81G>A
ENST00000562470.3:c.67-81G>A	ENSP00000490882.2:n.67-81G>A
ENST00000566775.2:c.67-81G>A	ENSP00000455252.2:n.67-81G>A
ENST00000567074.6:c.67-81G>A	ENSP00000455893.2:n.67-81G>A
ENST00000567383.6:c.67-81G>A	ENSP00000456188.2:n.67-81G>A
ENST00000677314.1:c.67-81G>A	ENSP00000503670.1:n.67-81G>A
ENST00000678584.1:n.94-81G>A
ENST00000679082.1:n.552-81G>A
ENST00000325437.9:c.67-81G>A	ENSP00000324897.5:n.67-81G>A
ENST00000355803.8:c.67-81G>A	ENSP00000348056.4:n.67-81G>A
ENST00000397514.7:c.67-81G>A	ENSP00000380649.3:n.67-81G>A
ENST00000397515.6:c.67-81G>A	ENSP00000380650.2:n.67-81G>A
ENST00000402301.5:c.67-81G>A	ENSP00000384361.1:n.67-81G>A
ENST00000403747.6:c.67-81G>A	ENSP00000385009.2:n.67-81G>A
ENST00000406620.5:c.67-81G>A	ENSP00000384568.1:n.67-81G>A
ENST00000473256.6:n.216-81G>A
ENST00000562482.1:n.94-81G>A
ENST00000566587.5:c.67-81G>A	ENSP00000457064.1:n.67-81G>A
ENST00000566775.1:c.53-81G>A
ENST00000567074.5:c.67-81G>A	ENSP00000455893.1:n.67-81G>A
ENST00000567383.5:c.67-81G>A	ENSP00000456188.1:n.67-81G>A
ENST00000568209.5:n.152+116G>A
ENST00000568288.5:n.127-81G>A
NM_003345.4:c.67-81G>A	NP_003336.1:n.67-81G>A
NM_194259.2:c.67-81G>A	NP_919235.1:n.67-81G>A
NM_194260.2:c.67-81G>A	NP_919236.1:n.67-81G>A
NM_194261.2:c.67-81G>A	NP_919237.1:n.67-81G>A
XM_005255540.2:c.67-81G>A	XP_005255597.1:n.67-81G>A
XM_005255541.3:c.67-81G>A	XP_005255598.1:n.67-81G>A
XM_011522644.1:c.67-81G>A	XP_011520946.1:n.67-81G>A
XM_011522645.1:c.67-81G>A	XP_011520947.1:n.67-81G>A
XM_005255541.4:c.67-81G>A	XP_005255598.1:n.67-81G>A
XM_011522644.2:c.67-81G>A	XP_011520946.1:n.67-81G>A
XM_017023640.1:c.67-81G>A	XP_016879129.1:n.67-81G>A
XM_024450432.1:c.67-81G>A	XP_024306200.1:n.67-81G>A
NM_003345.5:c.67-81G>A MANE Select	NP_003336.1:n.67-81G>A
NM_194259.3:c.67-81G>A	NP_919235.1:n.67-81G>A
NM_194260.3:c.67-81G>A	NP_919236.1:n.67-81G>A
NM_194261.3:c.67-81G>A	NP_919237.1:n.67-81G>A

Linked Data

Genomic Alleles

Transcript Alleles