Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.65076470A>T , CM000676.2:g.65076470A>T	GRCh38
NC_000014.8:g.65543188A>T , CM000676.1:g.65543188A>T	GRCh37
NC_000014.7:g.64612941A>T	NCBI36
NG_029830.1:g.31040T>A , LRG_530:g.31040T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556892.6:c.*6T>A	ENSP00000452206.2:n.*6T>A
ENST00000556979.6:c.*942T>A	ENSP00000452378.1:n.*942T>A
ENST00000358664.9:c.*6T>A MANE Select	ENSP00000351490.4:n.*6T>A
ENST00000651648.1:c.145-6101T>A	ENSP00000498863.1:n.145-6101T>A
ENST00000284165.10:c.*1333T>A	ENSP00000284165.6:n.*1333T>A
ENST00000341653.6:c.171+17238T>A	ENSP00000342482.2:n.171+17238T>A
ENST00000358402.8:c.*6T>A	ENSP00000351175.4:n.*6T>A
ENST00000358664.8:c.*6T>A	ENSP00000351490.4:n.*6T>A
ENST00000394606.6:c.*262T>A	ENSP00000378104.2:n.*262T>A
ENST00000553928.5:c.*278T>A	ENSP00000451907.1:n.*278T>A
ENST00000555419.5:c.381T>A	ENSP00000452405.1:n.381T>A
ENST00000555932.5:c.230T>A	ENSP00000450763.1:p.Leu77His
ENST00000557277.5:c.*6T>A	ENSP00000450955.1:n.*6T>A
ENST00000618858.4:c.*278T>A	ENSP00000480127.1:n.*278T>A
NM_001271069.1:c.144+17238T>A	NP_001257998.1:n.144+17238T>A
NM_002382.4:c.*6T>A	NP_002373.3:n.*6T>A
NM_145112.2:c.*6T>A	NP_660087.1:n.*6T>A
NM_145113.2:c.*278T>A	NP_660088.1:n.*278T>A
NM_197957.3:c.171+17238T>A	NP_932061.1:n.171+17238T>A
NR_073137.1:n.613T>A
XR_429315.2:n.776T>A
NM_001320415.1:c.*6T>A	NP_001307344.1:n.*6T>A
XM_017021312.2:c.*6T>A	XP_016876801.1:n.*6T>A
XM_017021313.1:c.*6T>A	XP_016876802.1:n.*6T>A
XR_001750326.2:n.834T>A
XR_001750327.2:n.753T>A
XR_002957553.1:n.1267T>A
XR_943450.3:n.857T>A
XR_943451.3:n.873T>A
XR_943452.3:n.818T>A
NM_001320415.2:c.*6T>A	NP_001307344.1:n.*6T>A
NM_002382.5:c.*6T>A MANE Select	NP_002373.3:n.*6T>A
NM_145112.3:c.*6T>A	NP_660087.1:n.*6T>A
NM_145113.3:c.*278T>A	NP_660088.1:n.*278T>A
NM_001271069.2:c.144+17238T>A	NP_001257998.1:n.144+17238T>A
NM_197957.4:c.171+17238T>A	NP_932061.1:n.171+17238T>A

Linked Data

Genomic Alleles

Transcript Alleles