Canonical Allele Identifier: CA110790046

Gene: AGA

Linked Data

• dbSNP Id: rs562977282
• gnomAD v3: 4-177439289-G-A
• gnomAD v4: 4-177439289-G-A
• MyVariant Identifiers: chr4:g.178360443G>A (hg19) ; chr4:g.177439289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439289G>A , CM000666.2:g.177439289G>A	GRCh38
NC_000004.11:g.178360443G>A , CM000666.1:g.178360443G>A	GRCh37
NC_000004.10:g.178597437G>A	NCBI36
NG_011845.2:g.8215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+287C>T MANE Select	ENSP00000264595.2:n.394+287C>T
ENST00000264595.6:c.394+287C>T	ENSP00000264595.2:n.394+287C>T
ENST00000502310.5:c.49+287C>T	ENSP00000423798.1:n.49+287C>T
ENST00000506853.5:n.428+287C>T
ENST00000510635.1:c.90+287C>T
ENST00000510955.5:n.316-432C>T
NM_000027.3:c.394+287C>T	NP_000018.2:n.394+287C>T
NM_001171988.1:c.394+287C>T	NP_001165459.1:n.394+287C>T
NR_033655.1:n.522+287C>T
XM_006714123.2:c.394+287C>T	XP_006714186.1:n.394+287C>T
XR_001741155.2:n.488+287C>T
NM_000027.4:c.394+287C>T MANE Select	NP_000018.2:n.394+287C>T
NM_001171988.2:c.394+287C>T	NP_001165459.1:n.394+287C>T
NR_033655.2:n.456+287C>T