Canonical Allele Identifier: CA3146972

Gene: AGA

Linked Data

• dbSNP Id: rs772979226
• ExAC: 4:178361395 C / T
• gnomAD v2: 4-178361395-C-T
• gnomAD v4: 4-177440241-C-T
• MyVariant Identifiers: chr4:g.178361395C>T (hg19) ; chr4:g.177440241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440241C>T , CM000666.2:g.177440241C>T	GRCh38
NC_000004.11:g.178361395C>T , CM000666.1:g.178361395C>T	GRCh37
NC_000004.10:g.178598389C>T	NCBI36
NG_011845.2:g.7263G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.281+32G>A MANE Select	ENSP00000264595.2:n.281+32G>A
ENST00000264595.6:c.281+32G>A	ENSP00000264595.2:n.281+32G>A
ENST00000506853.5:n.315+32G>A
ENST00000510955.5:n.315+32G>A
ENST00000511231.1:n.347G>A
NM_000027.3:c.281+32G>A	NP_000018.2:n.281+32G>A
NM_001171988.1:c.281+32G>A	NP_001165459.1:n.281+32G>A
NR_033655.1:n.409+32G>A
XM_006714123.2:c.281+32G>A	XP_006714186.1:n.281+32G>A
XR_001741155.2:n.375+32G>A
NM_000027.4:c.281+32G>A MANE Select	NP_000018.2:n.281+32G>A
NM_001171988.2:c.281+32G>A	NP_001165459.1:n.281+32G>A
NR_033655.2:n.343+32G>A