Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617159G>T , CM000673.2:g.6617159G>T	GRCh38
NC_000011.9:g.6638390G>T , CM000673.1:g.6638390G>T	GRCh37
NC_000011.8:g.6594966G>T	NCBI36
NG_008653.1:g.7303C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.395-6C>A	ENSP00000507321.1:n.395-6C>A
ENST00000299427.12:c.509-6C>A MANE Select	ENSP00000299427.6:n.509-6C>A
ENST00000428886.7:n.738C>A
ENST00000436873.7:c.312+142C>A
ENST00000524788.2:n.1662C>A
ENST00000524903.2:n.1778C>A
ENST00000528807.2:n.165-6C>A
ENST00000530040.2:n.479+200C>A
ENST00000533371.6:c.-221-6C>A	ENSP00000437066.1:n.-221-6C>A
ENST00000534644.6:n.457-6C>A
ENST00000642892.1:c.-221-6C>A	ENSP00000494165.1:n.-221-6C>A
ENST00000643439.1:c.*249-6C>A	ENSP00000495849.1:n.*249-6C>A
ENST00000643479.1:n.538-6C>A
ENST00000643516.1:c.395+142C>A
ENST00000644151.1:n.1942C>A
ENST00000644218.1:c.509-6C>A	ENSP00000493574.1:n.509-6C>A
ENST00000644683.1:c.451-6C>A	ENSP00000494085.1:n.451-6C>A
ENST00000644810.1:c.230-6C>A	ENSP00000495895.1:n.230-6C>A
ENST00000644831.1:n.679C>A
ENST00000644933.1:c.-221-6C>A	ENSP00000496133.1:n.-221-6C>A
ENST00000645020.1:n.1678C>A
ENST00000645285.1:c.-221-6C>A	ENSP00000495058.1:n.-221-6C>A
ENST00000645331.1:n.869C>A
ENST00000645620.1:c.-221-6C>A	ENSP00000493657.1:n.-221-6C>A
ENST00000646777.1:n.679C>A
ENST00000647016.1:n.983C>A
ENST00000647152.1:c.-221-6C>A	ENSP00000495893.1:n.-221-6C>A
ENST00000647209.1:c.*378-6C>A	ENSP00000495558.1:n.*378-6C>A
ENST00000647346.1:n.1529-6C>A
ENST00000299427.10:c.509-6C>A	ENSP00000299427.6:n.509-6C>A
ENST00000428886.6:n.672C>A
ENST00000436873.6:c.450+200C>A	ENSP00000398136.2:n.450+200C>A
ENST00000524788.1:n.203C>A
ENST00000528571.5:c.*249-6C>A	ENSP00000434647.1:n.*249-6C>A
ENST00000528807.1:n.53C>A
ENST00000533371.5:c.-221-6C>A	ENSP00000437066.1:n.-221-6C>A
ENST00000534644.5:n.494-6C>A
ENST00000611494.4:c.509-6C>A	ENSP00000484546.1:n.509-6C>A
NM_000391.3:c.509-6C>A	NP_000382.3:n.509-6C>A
NM_000391.4:c.509-6C>A MANE Select	NP_000382.3:n.509-6C>A