Canonical Allele Identifier: CA110787504

Gene: AGA

Linked Data

• dbSNP Id: rs112527169
• MyVariant Identifiers: chr4:g.178355563C>T (hg19) ; chr4:g.177434409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434409C>T , CM000666.2:g.177434409C>T	GRCh38
NC_000004.11:g.178355563C>T , CM000666.1:g.178355563C>T	GRCh37
NC_000004.10:g.178592557C>T	NCBI36
NG_011845.2:g.13095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.779G>A MANE Select	ENSP00000264595.2:p.Gly260Asp
ENST00000264595.6:c.779G>A	ENSP00000264595.2:p.Gly260Asp
ENST00000502310.5:c.350G>A	ENSP00000423798.1:p.Gly117Asp
ENST00000506853.5:n.737G>A
NM_000027.3:c.779G>A	NP_000018.2:p.Gly260Asp
NM_001171988.1:c.749G>A	NP_001165459.1:p.Gly250Asp
NR_033655.1:n.831G>A
XM_006714123.2:c.*73G>A	XP_006714186.1:n.*73G>A
XR_001741155.2:n.851G>A
NM_000027.4:c.779G>A MANE Select	NP_000018.2:p.Gly260Asp
NM_001171988.2:c.749G>A	NP_001165459.1:p.Gly250Asp
NR_033655.2:n.765G>A