Canonical Allele Identifier: CA385040481

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702550C>A (hg19) ; chr12:g.53308766C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308766C>A , CM000674.2:g.53308766C>A	GRCh38
NC_000012.11:g.53702550C>A , CM000674.1:g.53702550C>A	GRCh37
NC_000012.10:g.51988817C>A	NCBI36
NG_016775.1:g.17863G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1046G>T MANE Select	ENSP00000209873.4:p.Gly349Val
ENST00000546562.6:n.2110G>T
ENST00000547238.6:n.1682G>T
ENST00000547520.6:n.1040G>T
ENST00000547757.2:c.95G>T	ENSP00000448020.2:p.Gly32Val
ENST00000548880.2:n.1496G>T
ENST00000548931.6:c.566G>T	ENSP00000457518.1:p.Gly189Val
ENST00000549450.6:n.980G>T
ENST00000552161.6:n.2002G>T
ENST00000672797.1:n.1535G>T
ENST00000672900.1:n.1988G>T
ENST00000209873.8:c.1046G>T	ENSP00000209873.4:p.Gly349Val
ENST00000394384.7:c.947G>T	ENSP00000377908.3:p.Gly316Val
ENST00000547520.5:n.750G>T
ENST00000548931.5:c.566G>T	ENSP00000457518.1:p.Gly189Val
ENST00000550033.5:n.301G>T
ENST00000550286.5:c.674G>T	ENSP00000446885.1:p.Gly225Val
ENST00000552876.5:n.1389G>T
NM_001173466.1:c.947G>T	NP_001166937.1:p.Gly316Val
NM_015665.5:c.1046G>T	NP_056480.1:p.Gly349Val
XM_006719617.2:c.1061G>T	XP_006719680.1:p.Gly354Val
XM_006719619.2:c.*56G>T	XP_006719682.1:n.*56G>T
XM_011538777.1:c.1061G>T	XP_011537079.1:p.Gly354Val
XM_011538778.1:c.1046G>T	XP_011537080.1:p.Gly349Val
XM_011538779.1:c.962G>T	XP_011537081.1:p.Gly321Val
XM_011538780.1:c.947G>T	XP_011537082.1:p.Gly316Val
XM_011538781.1:c.395G>T	XP_011537083.1:p.Gly132Val
XM_011538778.2:c.1046G>T	XP_011537080.1:p.Gly349Val
XM_011538780.2:c.947G>T	XP_011537082.1:p.Gly316Val
XR_001748875.2:n.1103G>T
NM_015665.6:c.1046G>T MANE Select	NP_056480.1:p.Gly349Val
NM_001173466.2:c.947G>T	NP_001166937.1:p.Gly316Val