Canonical Allele Identifier: CA1515645156

Gene: AGA

Linked Data

• dbSNP Id: rs1736937738
• gnomAD v4: 4-177439813-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439813C>T , CM000666.2:g.177439813C>T	GRCh38
NC_000004.11:g.178360967C>T , CM000666.1:g.178360967C>T	GRCh37
NC_000004.10:g.178597961C>T	NCBI36
NG_011845.2:g.7691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-125G>A MANE Select	ENSP00000264595.2:n.282-125G>A
ENST00000264595.6:c.282-125G>A	ENSP00000264595.2:n.282-125G>A
ENST00000506853.5:n.316-125G>A
ENST00000510955.5:n.315+460G>A
NM_000027.3:c.282-125G>A	NP_000018.2:n.282-125G>A
NM_001171988.1:c.282-125G>A	NP_001165459.1:n.282-125G>A
NR_033655.1:n.410-125G>A
XM_006714123.2:c.282-125G>A	XP_006714186.1:n.282-125G>A
XR_001741155.2:n.376-125G>A
NM_000027.4:c.282-125G>A MANE Select	NP_000018.2:n.282-125G>A
NM_001171988.2:c.282-125G>A	NP_001165459.1:n.282-125G>A
NR_033655.2:n.344-125G>A