Canonical Allele Identifier: CA1071332322

Gene: AGA

Linked Data

• dbSNP Id: rs766234282
• gnomAD v3: 4-177442386-C-A
• gnomAD v4: 4-177442386-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442386C>A , CM000666.2:g.177442386C>A	GRCh38
NC_000004.11:g.178363540C>A , CM000666.1:g.178363540C>A	GRCh37
NC_000004.10:g.178600534C>A	NCBI36
NG_011845.2:g.5118G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.-11G>T MANE Select	ENSP00000264595.2:n.-11G>T
ENST00000264595.6:c.-11G>T	ENSP00000264595.2:n.-11G>T
ENST00000506853.5:n.24G>T
ENST00000510955.5:n.24G>T
ENST00000511231.1:n.24G>T
NM_000027.3:c.-11G>T	NP_000018.2:n.-11G>T
NM_001171988.1:c.-11G>T	NP_001165459.1:n.-11G>T
NR_033655.1:n.118G>T
XM_006714123.2:c.-11G>T	XP_006714186.1:n.-11G>T
XR_001741155.2:n.84G>T
NM_000027.4:c.-11G>T MANE Select	NP_000018.2:n.-11G>T
NM_001171988.2:c.-11G>T	NP_001165459.1:n.-11G>T
NR_033655.2:n.52G>T