Canonical Allele Identifier: CA2578238541

Gene: AGA

Linked Data

• gnomAD v4: 4-177439554-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439554T>A , CM000666.2:g.177439554T>A	GRCh38
NC_000004.11:g.178360708T>A , CM000666.1:g.178360708T>A	GRCh37
NC_000004.10:g.178597702T>A	NCBI36
NG_011845.2:g.7950A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.394+22A>T MANE Select	ENSP00000264595.2:n.394+22A>T
ENST00000264595.6:c.394+22A>T	ENSP00000264595.2:n.394+22A>T
ENST00000502310.5:c.49+22A>T	ENSP00000423798.1:n.49+22A>T
ENST00000506853.5:n.428+22A>T
ENST00000510635.1:c.90+22A>T
ENST00000510955.5:n.316-697A>T
NM_000027.3:c.394+22A>T	NP_000018.2:n.394+22A>T
NM_001171988.1:c.394+22A>T	NP_001165459.1:n.394+22A>T
NR_033655.1:n.522+22A>T
XM_006714123.2:c.394+22A>T	XP_006714186.1:n.394+22A>T
XR_001741155.2:n.488+22A>T
NM_000027.4:c.394+22A>T MANE Select	NP_000018.2:n.394+22A>T
NM_001171988.2:c.394+22A>T	NP_001165459.1:n.394+22A>T
NR_033655.2:n.456+22A>T