Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.172873471A>G , CM000667.2:g.172873471A>G	GRCh38
NC_000005.9:g.172300474A>G , CM000667.1:g.172300474A>G	GRCh37
NC_000005.8:g.172233080A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326654.7:c.21-15228A>G	ENSP00000325127.3:n.21-15228A>G
ENST00000520326.6:n.81-15228A>G
ENST00000684928.1:c.21-15228A>G	ENSP00000510698.1:n.21-15228A>G
ENST00000685391.1:c.21-15228A>G	ENSP00000509294.1:n.21-15228A>G
ENST00000686615.1:c.21-15228A>G	ENSP00000509559.1:n.21-15228A>G
ENST00000686955.1:c.21-15228A>G	ENSP00000509772.1:n.21-15228A>G
ENST00000687702.1:c.21-15228A>G	ENSP00000508714.1:n.21-15228A>G
ENST00000687901.1:c.-256-15228A>G	ENSP00000509817.1:n.-256-15228A>G
ENST00000689975.1:c.21-15228A>G	ENSP00000509397.1:n.21-15228A>G
ENST00000689977.1:n.32-15228A>G
ENST00000690799.1:c.21-15228A>G	ENSP00000510667.1:n.21-15228A>G
ENST00000691612.1:c.21-23531A>G	ENSP00000509840.1:n.21-23531A>G
ENST00000692557.1:n.71-15228A>G
ENST00000693299.1:c.-256-15228A>G	ENSP00000509429.1:n.-256-15228A>G
ENST00000393784.8:c.21-15228A>G MANE Select	ENSP00000377374.3:n.21-15228A>G
ENST00000393784.7:c.21-15228A>G	ENSP00000377374.3:n.21-15228A>G
ENST00000519860.3:n.116-15228A>G
ENST00000520326.5:n.100-15228A>G
ENST00000520642.5:c.21-15228A>G	ENSP00000428064.1:n.21-15228A>G
ENST00000523291.5:c.21-15228A>G	ENSP00000427713.1:n.21-15228A>G
NM_001031711.2:c.21-15228A>G	NP_001026881.1:n.21-15228A>G
XM_011534597.1:c.93-15228A>G	XP_011532899.1:n.93-15228A>G
XM_011534598.1:c.21-15228A>G	XP_011532900.1:n.21-15228A>G
XM_011534599.1:c.93-15228A>G	XP_011532901.1:n.93-15228A>G
XM_011534600.1:c.93-15228A>G	XP_011532902.1:n.93-15228A>G
XM_011534598.3:c.21-15228A>G	XP_011532900.1:n.21-15228A>G
XM_017009654.1:c.93-15228A>G	XP_016865143.1:n.93-15228A>G
XM_017009655.1:c.93-15228A>G	XP_016865144.1:n.93-15228A>G
XM_024446135.1:c.-161-15228A>G	XP_024301903.1:n.-161-15228A>G
XR_001742159.2:n.48-15228A>G
NM_001031711.3:c.21-15228A>G MANE Select	NP_001026881.1:n.21-15228A>G