Canonical Allele Identifier: CA385040385

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702538A>C (hg19) ; chr12:g.53308754A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308754A>C , CM000674.2:g.53308754A>C	GRCh38
NC_000012.11:g.53702538A>C , CM000674.1:g.53702538A>C	GRCh37
NC_000012.10:g.51988805A>C	NCBI36
NG_016775.1:g.17875T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1058T>G MANE Select	ENSP00000209873.4:p.Ile353Ser
ENST00000546562.6:n.2122T>G
ENST00000547238.6:n.1694T>G
ENST00000547520.6:n.1052T>G
ENST00000547757.2:c.107T>G	ENSP00000448020.2:p.Ile36Ser
ENST00000548880.2:n.1508T>G
ENST00000548931.6:c.578T>G	ENSP00000457518.1:p.Ile193Ser
ENST00000549450.6:n.992T>G
ENST00000552161.6:n.2014T>G
ENST00000672797.1:n.1547T>G
ENST00000672900.1:n.2000T>G
ENST00000209873.8:c.1058T>G	ENSP00000209873.4:p.Ile353Ser
ENST00000394384.7:c.959T>G	ENSP00000377908.3:p.Ile320Ser
ENST00000547520.5:n.762T>G
ENST00000548931.5:c.578T>G	ENSP00000457518.1:p.Ile193Ser
ENST00000550033.5:n.313T>G
ENST00000550286.5:c.686T>G	ENSP00000446885.1:p.Ile229Ser
ENST00000552876.5:n.1401T>G
NM_001173466.1:c.959T>G	NP_001166937.1:p.Ile320Ser
NM_015665.5:c.1058T>G	NP_056480.1:p.Ile353Ser
XM_006719617.2:c.1073T>G	XP_006719680.1:p.Ile358Ser
XM_011538777.1:c.1073T>G	XP_011537079.1:p.Ile358Ser
XM_011538778.1:c.1058T>G	XP_011537080.1:p.Ile353Ser
XM_011538779.1:c.974T>G	XP_011537081.1:p.Ile325Ser
XM_011538780.1:c.959T>G	XP_011537082.1:p.Ile320Ser
XM_011538781.1:c.407T>G	XP_011537083.1:p.Ile136Ser
XM_011538778.2:c.1058T>G	XP_011537080.1:p.Ile353Ser
XM_011538780.2:c.959T>G	XP_011537082.1:p.Ile320Ser
XR_001748875.2:n.1115T>G
NM_015665.6:c.1058T>G MANE Select	NP_056480.1:p.Ile353Ser
NM_001173466.2:c.959T>G	NP_001166937.1:p.Ile320Ser