Canonical Allele Identifier: CA385040243

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1078G>T MANE Select	ENSP00000209873.4:p.Glu360Ter
ENST00000546562.6:n.2142G>T
ENST00000547238.6:n.1714G>T
ENST00000547520.6:n.1072G>T
ENST00000547757.2:c.127G>T	ENSP00000448020.2:p.Glu43Ter
ENST00000548880.2:n.1528G>T
ENST00000548931.6:c.598G>T	ENSP00000457518.1:p.Glu200Ter
ENST00000549450.6:n.1012G>T
ENST00000552161.6:n.2034G>T
ENST00000672797.1:n.1567G>T
ENST00000672900.1:n.2020G>T
ENST00000209873.8:c.1078G>T	ENSP00000209873.4:p.Glu360Ter
ENST00000394384.7:c.979G>T	ENSP00000377908.3:p.Glu327Ter
ENST00000548931.5:c.598G>T	ENSP00000457518.1:p.Glu200Ter
ENST00000550033.5:n.333G>T
ENST00000550286.5:c.706G>T	ENSP00000446885.1:p.Glu236Ter
ENST00000552876.5:n.1421G>T
NM_001173466.1:c.979G>T	NP_001166937.1:p.Glu327Ter
NM_015665.5:c.1078G>T	NP_056480.1:p.Glu360Ter
XM_006719617.2:c.1093G>T	XP_006719680.1:p.Glu365Ter
XM_011538777.1:c.1093G>T	XP_011537079.1:p.Glu365Ter
XM_011538778.1:c.1078G>T	XP_011537080.1:p.Glu360Ter
XM_011538779.1:c.994G>T	XP_011537081.1:p.Glu332Ter
XM_011538780.1:c.979G>T	XP_011537082.1:p.Glu327Ter
XM_011538781.1:c.427G>T	XP_011537083.1:p.Glu143Ter
XM_011538778.2:c.1078G>T	XP_011537080.1:p.Glu360Ter
XM_011538780.2:c.979G>T	XP_011537082.1:p.Glu327Ter
XR_001748875.2:n.1135G>T
NM_015665.6:c.1078G>T MANE Select	NP_056480.1:p.Glu360Ter
NM_001173466.2:c.979G>T	NP_001166937.1:p.Glu327Ter