Canonical Allele Identifier: CA791501984

Gene: AGA

Linked Data

• ClinVar Variation Id: 1659234
• ClinVar RCV Id: RCV002178337
• dbSNP Id: rs376346895
• gnomAD v3: 4-177440255-C-T
• gnomAD v4: 4-177440255-C-T
• MyVariant Identifiers: chr4:g.178361409C>T (hg19) ; chr4:g.177440255C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440255C>T , CM000666.2:g.177440255C>T	GRCh38
NC_000004.11:g.178361409C>T , CM000666.1:g.178361409C>T	GRCh37
NC_000004.10:g.178598403C>T	NCBI36
NG_011845.2:g.7249G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.281+18G>A MANE Select	ENSP00000264595.2:n.281+18G>A
ENST00000264595.6:c.281+18G>A	ENSP00000264595.2:n.281+18G>A
ENST00000506853.5:n.315+18G>A
ENST00000510955.5:n.315+18G>A
ENST00000511231.1:n.333G>A
NM_000027.3:c.281+18G>A	NP_000018.2:n.281+18G>A
NM_001171988.1:c.281+18G>A	NP_001165459.1:n.281+18G>A
NR_033655.1:n.409+18G>A
XM_006714123.2:c.281+18G>A	XP_006714186.1:n.281+18G>A
XR_001741155.2:n.375+18G>A
NM_000027.4:c.281+18G>A MANE Select	NP_000018.2:n.281+18G>A
NM_001171988.2:c.281+18G>A	NP_001165459.1:n.281+18G>A
NR_033655.2:n.343+18G>A