Canonical Allele Identifier: CA479918399

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702513A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308729A>C , CM000674.2:g.53308729A>C	GRCh38
NC_000012.11:g.53702513A>C , CM000674.1:g.53702513A>C	GRCh37
NC_000012.10:g.51988780A>C	NCBI36
NG_016775.1:g.17900T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1083T>G MANE Select	ENSP00000209873.4:p.Arg361=
ENST00000546562.6:n.2147T>G
ENST00000547238.6:n.1719T>G
ENST00000547520.6:n.1077T>G
ENST00000547757.2:c.132T>G	ENSP00000448020.2:p.Arg44=
ENST00000548880.2:n.1533T>G
ENST00000548931.6:c.603T>G	ENSP00000457518.1:p.Arg201=
ENST00000549450.6:n.1017T>G
ENST00000552161.6:n.2039T>G
ENST00000672797.1:n.1572T>G
ENST00000672900.1:n.2025T>G
ENST00000209873.8:c.1083T>G	ENSP00000209873.4:p.Arg361=
ENST00000394384.7:c.984T>G	ENSP00000377908.3:p.Arg328=
ENST00000548931.5:c.603T>G	ENSP00000457518.1:p.Arg201=
ENST00000550033.5:n.338T>G
ENST00000550286.5:c.711T>G	ENSP00000446885.1:p.Arg237=
ENST00000552876.5:n.1426T>G
NM_001173466.1:c.984T>G	NP_001166937.1:p.Arg328=
NM_015665.5:c.1083T>G	NP_056480.1:p.Arg361=
XM_006719617.2:c.1098T>G	XP_006719680.1:p.Arg366=
XM_011538777.1:c.1098T>G	XP_011537079.1:p.Arg366=
XM_011538778.1:c.1083T>G	XP_011537080.1:p.Arg361=
XM_011538779.1:c.999T>G	XP_011537081.1:p.Arg333=
XM_011538780.1:c.984T>G	XP_011537082.1:p.Arg328=
XM_011538781.1:c.432T>G	XP_011537083.1:p.Arg144=
XM_011538778.2:c.1083T>G	XP_011537080.1:p.Arg361=
XM_011538780.2:c.984T>G	XP_011537082.1:p.Arg328=
XR_001748875.2:n.1140T>G
NM_015665.6:c.1083T>G MANE Select	NP_056480.1:p.Arg361=
NM_001173466.2:c.984T>G	NP_001166937.1:p.Arg328=