Canonical Allele Identifier: CA2581459089

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440260A>T , CM000666.2:g.177440260A>T	GRCh38
NC_000004.11:g.178361414A>T , CM000666.1:g.178361414A>T	GRCh37
NC_000004.10:g.178598408A>T	NCBI36
NG_011845.2:g.7244T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.281+13T>A MANE Select	ENSP00000264595.2:n.281+13T>A
ENST00000264595.6:c.281+13T>A	ENSP00000264595.2:n.281+13T>A
ENST00000506853.5:n.315+13T>A
ENST00000510955.5:n.315+13T>A
ENST00000511231.1:n.328T>A
NM_000027.3:c.281+13T>A	NP_000018.2:n.281+13T>A
NM_001171988.1:c.281+13T>A	NP_001165459.1:n.281+13T>A
NR_033655.1:n.409+13T>A
XM_006714123.2:c.281+13T>A	XP_006714186.1:n.281+13T>A
XR_001741155.2:n.375+13T>A
NM_000027.4:c.281+13T>A MANE Select	NP_000018.2:n.281+13T>A
NM_001171988.2:c.281+13T>A	NP_001165459.1:n.281+13T>A
NR_033655.2:n.343+13T>A