Canonical Allele Identifier: CA2707748080

Gene: AGA

Linked Data

• dbSNP Id: rs2111021155

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440180T>A , CM000666.2:g.177440180T>A	GRCh38
NC_000004.11:g.178361334T>A , CM000666.1:g.178361334T>A	GRCh37
NC_000004.10:g.178598328T>A	NCBI36
NG_011845.2:g.7324A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.281+93A>T MANE Select	ENSP00000264595.2:n.281+93A>T
ENST00000264595.6:c.281+93A>T	ENSP00000264595.2:n.281+93A>T
ENST00000506853.5:n.315+93A>T
ENST00000510955.5:n.315+93A>T
ENST00000511231.1:n.408A>T
NM_000027.3:c.281+93A>T	NP_000018.2:n.281+93A>T
NM_001171988.1:c.281+93A>T	NP_001165459.1:n.281+93A>T
NR_033655.1:n.409+93A>T
XM_006714123.2:c.281+93A>T	XP_006714186.1:n.281+93A>T
XR_001741155.2:n.375+93A>T
NM_000027.4:c.281+93A>T MANE Select	NP_000018.2:n.281+93A>T
NM_001171988.2:c.281+93A>T	NP_001165459.1:n.281+93A>T
NR_033655.2:n.343+93A>T