Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112025452G>A , CM000673.2:g.112025452G>A	GRCh38
NC_000011.9:g.111896176G>A , CM000673.1:g.111896176G>A	GRCh37
NC_000011.8:g.111401386G>A	NCBI36
NG_013342.1:g.5639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713569.1:c.-21G>A	ENSP00000518862.1:n.-21G>A
ENST00000280346.11:c.-21G>A MANE Select	ENSP00000280346.7:n.-21G>A
ENST00000527231.2:n.27G>A
ENST00000531306.2:c.-21G>A	ENSP00000433432.2:n.-21G>A
ENST00000679368.1:c.-21G>A	ENSP00000505314.1:n.-21G>A
ENST00000679466.1:n.27G>A
ENST00000679614.1:c.-21G>A	ENSP00000506007.1:n.-21G>A
ENST00000679815.1:c.-21G>A	ENSP00000504880.1:n.-21G>A
ENST00000679829.1:n.27G>A
ENST00000679878.1:c.-21G>A	ENSP00000505567.1:n.-21G>A
ENST00000680010.1:c.-21G>A	ENSP00000505768.1:n.-21G>A
ENST00000680331.1:c.-21G>A	ENSP00000506707.1:n.-21G>A
ENST00000681316.1:c.-21G>A	ENSP00000506560.1:n.-21G>A
ENST00000681328.1:c.-21G>A	ENSP00000506355.1:n.-21G>A
ENST00000681339.1:c.-21G>A	ENSP00000506167.1:n.-21G>A
ENST00000681638.1:c.-21G>A	ENSP00000506090.1:n.-21G>A
ENST00000280346.10:c.-21G>A	ENSP00000280346.6:n.-21G>A
ENST00000393051.5:c.-21G>A	ENSP00000376771.1:n.-21G>A
ENST00000533297.1:c.-21G>A	ENSP00000435374.1:n.-21G>A
NM_001931.4:c.-21G>A	NP_001922.2:n.-21G>A
XM_011542647.1:c.-21G>A	XP_011540949.1:n.-21G>A
XM_011542647.3:c.-21G>A	XP_011540949.1:n.-21G>A
NM_001372031.1:c.-21G>A	NP_001358960.1:n.-21G>A
NM_001372032.1:c.-21G>A	NP_001358961.1:n.-21G>A
NM_001372033.1:c.-21G>A	NP_001358962.1:n.-21G>A
NM_001372034.1:c.-21G>A	NP_001358963.1:n.-21G>A
NM_001372035.1:c.-21G>A	NP_001358964.1:n.-21G>A
NM_001372036.1:c.-62G>A	NP_001358965.1:n.-62G>A
NM_001372037.1:c.-62G>A	NP_001358966.1:n.-62G>A
NM_001372038.1:c.-21G>A	NP_001358967.1:n.-21G>A
NM_001372039.1:c.-21G>A	NP_001358968.1:n.-21G>A
NM_001372040.1:c.-21G>A	NP_001358969.1:n.-21G>A
NM_001372041.1:c.-21G>A	NP_001358970.1:n.-21G>A
NM_001372042.1:c.-487G>A	NP_001358971.1:n.-487G>A
NM_001931.5:c.-21G>A MANE Select	NP_001922.2:n.-21G>A
NR_164072.1:n.45G>A