Canonical Allele Identifier: CA110791001

Gene: AGA

Linked Data

• dbSNP Id: rs951440229
• gnomAD v2: 4-178361855-C-T
• gnomAD v3: 4-177440701-C-T
• gnomAD v4: 4-177440701-C-T
• MyVariant Identifiers: chr4:g.178361855C>T (hg19) ; chr4:g.177440701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440701C>T , CM000666.2:g.177440701C>T	GRCh38
NC_000004.11:g.178361855C>T , CM000666.1:g.178361855C>T	GRCh37
NC_000004.10:g.178598849C>T	NCBI36
NG_011845.2:g.6803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-275G>A MANE Select	ENSP00000264595.2:n.128-275G>A
ENST00000264595.6:c.128-275G>A	ENSP00000264595.2:n.128-275G>A
ENST00000506853.5:n.162-275G>A
ENST00000510955.5:n.162-275G>A
ENST00000511231.1:n.162-275G>A
NM_000027.3:c.128-275G>A	NP_000018.2:n.128-275G>A
NM_001171988.1:c.128-275G>A	NP_001165459.1:n.128-275G>A
NR_033655.1:n.256-275G>A
XM_006714123.2:c.128-275G>A	XP_006714186.1:n.128-275G>A
XR_001741155.2:n.222-275G>A
NM_000027.4:c.128-275G>A MANE Select	NP_000018.2:n.128-275G>A
NM_001171988.2:c.128-275G>A	NP_001165459.1:n.128-275G>A
NR_033655.2:n.190-275G>A