Canonical Allele Identifier: CA2672748582

Gene: AGA

Linked Data

• gnomAD v4: 4-177442386-C-T

Genomic Alleles

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

Transcript Alleles

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