Canonical Allele Identifier: CA385040231

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702518C>G (hg19) ; chr12:g.53308734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308734C>G , CM000674.2:g.53308734C>G	GRCh38
NC_000012.11:g.53702518C>G , CM000674.1:g.53702518C>G	GRCh37
NC_000012.10:g.51988785C>G	NCBI36
NG_016775.1:g.17895G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1078G>C MANE Select	ENSP00000209873.4:p.Glu360Gln
ENST00000546562.6:n.2142G>C
ENST00000547238.6:n.1714G>C
ENST00000547520.6:n.1072G>C
ENST00000547757.2:c.127G>C	ENSP00000448020.2:p.Glu43Gln
ENST00000548880.2:n.1528G>C
ENST00000548931.6:c.598G>C	ENSP00000457518.1:p.Glu200Gln
ENST00000549450.6:n.1012G>C
ENST00000552161.6:n.2034G>C
ENST00000672797.1:n.1567G>C
ENST00000672900.1:n.2020G>C
ENST00000209873.8:c.1078G>C	ENSP00000209873.4:p.Glu360Gln
ENST00000394384.7:c.979G>C	ENSP00000377908.3:p.Glu327Gln
ENST00000548931.5:c.598G>C	ENSP00000457518.1:p.Glu200Gln
ENST00000550033.5:n.333G>C
ENST00000550286.5:c.706G>C	ENSP00000446885.1:p.Glu236Gln
ENST00000552876.5:n.1421G>C
NM_001173466.1:c.979G>C	NP_001166937.1:p.Glu327Gln
NM_015665.5:c.1078G>C	NP_056480.1:p.Glu360Gln
XM_006719617.2:c.1093G>C	XP_006719680.1:p.Glu365Gln
XM_011538777.1:c.1093G>C	XP_011537079.1:p.Glu365Gln
XM_011538778.1:c.1078G>C	XP_011537080.1:p.Glu360Gln
XM_011538779.1:c.994G>C	XP_011537081.1:p.Glu332Gln
XM_011538780.1:c.979G>C	XP_011537082.1:p.Glu327Gln
XM_011538781.1:c.427G>C	XP_011537083.1:p.Glu143Gln
XM_011538778.2:c.1078G>C	XP_011537080.1:p.Glu360Gln
XM_011538780.2:c.979G>C	XP_011537082.1:p.Glu327Gln
XR_001748875.2:n.1135G>C
NM_015665.6:c.1078G>C MANE Select	NP_056480.1:p.Glu360Gln
NM_001173466.2:c.979G>C	NP_001166937.1:p.Glu327Gln