Canonical Allele Identifier: CA479918483

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702753C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308969C>G , CM000674.2:g.53308969C>G	GRCh38
NC_000012.11:g.53702753C>G , CM000674.1:g.53702753C>G	GRCh37
NC_000012.10:g.51989020C>G	NCBI36
NG_016775.1:g.17660G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.987G>C MANE Select	ENSP00000209873.4:p.Gly329=
ENST00000546393.7:n.1832G>C
ENST00000546562.6:n.2051G>C
ENST00000547238.6:n.1623G>C
ENST00000547520.6:n.981G>C
ENST00000547757.2:c.36G>C	ENSP00000448020.2:p.Gly12=
ENST00000548880.2:n.1437G>C
ENST00000548931.6:c.507G>C	ENSP00000457518.1:p.Gly169=
ENST00000549450.6:n.921G>C
ENST00000552161.6:n.1943G>C
ENST00000672797.1:n.1440G>C
ENST00000672900.1:n.1785G>C
ENST00000209873.8:c.987G>C	ENSP00000209873.4:p.Gly329=
ENST00000394384.7:c.888G>C	ENSP00000377908.3:p.Gly296=
ENST00000546572.1:n.575G>C
ENST00000547520.5:n.691G>C
ENST00000548931.5:c.507G>C	ENSP00000457518.1:p.Gly169=
ENST00000550033.5:n.242G>C
ENST00000550286.5:c.615G>C	ENSP00000446885.1:p.Gly205=
ENST00000552876.5:n.1330G>C
NM_001173466.1:c.888G>C	NP_001166937.1:p.Gly296=
NM_015665.5:c.987G>C	NP_056480.1:p.Gly329=
XM_006719617.2:c.1002G>C	XP_006719680.1:p.Gly334=
XM_006719619.2:c.1002G>C	XP_006719682.1:p.Gly334=
XM_011538777.1:c.1002G>C	XP_011537079.1:p.Gly334=
XM_011538778.1:c.987G>C	XP_011537080.1:p.Gly329=
XM_011538779.1:c.903G>C	XP_011537081.1:p.Gly301=
XM_011538780.1:c.888G>C	XP_011537082.1:p.Gly296=
XM_011538781.1:c.336G>C	XP_011537083.1:p.Gly112=
XM_011538778.2:c.987G>C	XP_011537080.1:p.Gly329=
XM_011538780.2:c.888G>C	XP_011537082.1:p.Gly296=
XR_001748875.2:n.1008G>C
NM_015665.6:c.987G>C MANE Select	NP_056480.1:p.Gly329=
NM_001173466.2:c.888G>C	NP_001166937.1:p.Gly296=