Canonical Allele Identifier: CA385040224

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702517T>G (hg19) ; chr12:g.53308733T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308733T>G , CM000674.2:g.53308733T>G	GRCh38
NC_000012.11:g.53702517T>G , CM000674.1:g.53702517T>G	GRCh37
NC_000012.10:g.51988784T>G	NCBI36
NG_016775.1:g.17896A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1079A>C MANE Select	ENSP00000209873.4:p.Glu360Ala
ENST00000546562.6:n.2143A>C
ENST00000547238.6:n.1715A>C
ENST00000547520.6:n.1073A>C
ENST00000547757.2:c.128A>C	ENSP00000448020.2:p.Glu43Ala
ENST00000548880.2:n.1529A>C
ENST00000548931.6:c.599A>C	ENSP00000457518.1:p.Glu200Ala
ENST00000549450.6:n.1013A>C
ENST00000552161.6:n.2035A>C
ENST00000672797.1:n.1568A>C
ENST00000672900.1:n.2021A>C
ENST00000209873.8:c.1079A>C	ENSP00000209873.4:p.Glu360Ala
ENST00000394384.7:c.980A>C	ENSP00000377908.3:p.Glu327Ala
ENST00000548931.5:c.599A>C	ENSP00000457518.1:p.Glu200Ala
ENST00000550033.5:n.334A>C
ENST00000550286.5:c.707A>C	ENSP00000446885.1:p.Glu236Ala
ENST00000552876.5:n.1422A>C
NM_001173466.1:c.980A>C	NP_001166937.1:p.Glu327Ala
NM_015665.5:c.1079A>C	NP_056480.1:p.Glu360Ala
XM_006719617.2:c.1094A>C	XP_006719680.1:p.Glu365Ala
XM_011538777.1:c.1094A>C	XP_011537079.1:p.Glu365Ala
XM_011538778.1:c.1079A>C	XP_011537080.1:p.Glu360Ala
XM_011538779.1:c.995A>C	XP_011537081.1:p.Glu332Ala
XM_011538780.1:c.980A>C	XP_011537082.1:p.Glu327Ala
XM_011538781.1:c.428A>C	XP_011537083.1:p.Glu143Ala
XM_011538778.2:c.1079A>C	XP_011537080.1:p.Glu360Ala
XM_011538780.2:c.980A>C	XP_011537082.1:p.Glu327Ala
XR_001748875.2:n.1136A>C
NM_015665.6:c.1079A>C MANE Select	NP_056480.1:p.Glu360Ala
NM_001173466.2:c.980A>C	NP_001166937.1:p.Glu327Ala