Canonical Allele Identifier: CA2672748422

Gene: AGA

Linked Data

• gnomAD v4: 4-177440536-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440536C>A , CM000666.2:g.177440536C>A	GRCh38
NC_000004.11:g.178361690C>A , CM000666.1:g.178361690C>A	GRCh37
NC_000004.10:g.178598684C>A	NCBI36
NG_011845.2:g.6968G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-110G>T MANE Select	ENSP00000264595.2:n.128-110G>T
ENST00000264595.6:c.128-110G>T	ENSP00000264595.2:n.128-110G>T
ENST00000506853.5:n.162-110G>T
ENST00000510955.5:n.162-110G>T
ENST00000511231.1:n.162-110G>T
NM_000027.3:c.128-110G>T	NP_000018.2:n.128-110G>T
NM_001171988.1:c.128-110G>T	NP_001165459.1:n.128-110G>T
NR_033655.1:n.256-110G>T
XM_006714123.2:c.128-110G>T	XP_006714186.1:n.128-110G>T
XR_001741155.2:n.222-110G>T
NM_000027.4:c.128-110G>T MANE Select	NP_000018.2:n.128-110G>T
NM_001171988.2:c.128-110G>T	NP_001165459.1:n.128-110G>T
NR_033655.2:n.190-110G>T