Canonical Allele Identifier: CA385040686

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702578C>G (hg19) ; chr12:g.53308794C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308794C>G , CM000674.2:g.53308794C>G	GRCh38
NC_000012.11:g.53702578C>G , CM000674.1:g.53702578C>G	GRCh37
NC_000012.10:g.51988845C>G	NCBI36
NG_016775.1:g.17835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1018G>C MANE Select	ENSP00000209873.4:p.Gly340Arg
ENST00000546393.7:n.1863G>C
ENST00000546562.6:n.2082G>C
ENST00000547238.6:n.1654G>C
ENST00000547520.6:n.1012G>C
ENST00000547757.2:c.67G>C	ENSP00000448020.2:p.Gly23Arg
ENST00000548880.2:n.1468G>C
ENST00000548931.6:c.538G>C	ENSP00000457518.1:p.Gly180Arg
ENST00000549450.6:n.952G>C
ENST00000552161.6:n.1974G>C
ENST00000672797.1:n.1507G>C
ENST00000672900.1:n.1960G>C
ENST00000209873.8:c.1018G>C	ENSP00000209873.4:p.Gly340Arg
ENST00000394384.7:c.919G>C	ENSP00000377908.3:p.Gly307Arg
ENST00000547520.5:n.722G>C
ENST00000548931.5:c.538G>C	ENSP00000457518.1:p.Gly180Arg
ENST00000550033.5:n.273G>C
ENST00000550286.5:c.646G>C	ENSP00000446885.1:p.Gly216Arg
ENST00000552876.5:n.1361G>C
NM_001173466.1:c.919G>C	NP_001166937.1:p.Gly307Arg
NM_015665.5:c.1018G>C	NP_056480.1:p.Gly340Arg
XM_006719617.2:c.1033G>C	XP_006719680.1:p.Gly345Arg
XM_006719619.2:c.*28G>C	XP_006719682.1:n.*28G>C
XM_011538777.1:c.1033G>C	XP_011537079.1:p.Gly345Arg
XM_011538778.1:c.1018G>C	XP_011537080.1:p.Gly340Arg
XM_011538779.1:c.934G>C	XP_011537081.1:p.Gly312Arg
XM_011538780.1:c.919G>C	XP_011537082.1:p.Gly307Arg
XM_011538781.1:c.367G>C	XP_011537083.1:p.Gly123Arg
XM_011538778.2:c.1018G>C	XP_011537080.1:p.Gly340Arg
XM_011538780.2:c.919G>C	XP_011537082.1:p.Gly307Arg
XR_001748875.2:n.1075G>C
NM_015665.6:c.1018G>C MANE Select	NP_056480.1:p.Gly340Arg
NM_001173466.2:c.919G>C	NP_001166937.1:p.Gly307Arg