Canonical Allele Identifier: CA385040391

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1058T>A MANE Select	ENSP00000209873.4:p.Ile353Asn
ENST00000546562.6:n.2122T>A
ENST00000547238.6:n.1694T>A
ENST00000547520.6:n.1052T>A
ENST00000547757.2:c.107T>A	ENSP00000448020.2:p.Ile36Asn
ENST00000548880.2:n.1508T>A
ENST00000548931.6:c.578T>A	ENSP00000457518.1:p.Ile193Asn
ENST00000549450.6:n.992T>A
ENST00000552161.6:n.2014T>A
ENST00000672797.1:n.1547T>A
ENST00000672900.1:n.2000T>A
ENST00000209873.8:c.1058T>A	ENSP00000209873.4:p.Ile353Asn
ENST00000394384.7:c.959T>A	ENSP00000377908.3:p.Ile320Asn
ENST00000547520.5:n.762T>A
ENST00000548931.5:c.578T>A	ENSP00000457518.1:p.Ile193Asn
ENST00000550033.5:n.313T>A
ENST00000550286.5:c.686T>A	ENSP00000446885.1:p.Ile229Asn
ENST00000552876.5:n.1401T>A
NM_001173466.1:c.959T>A	NP_001166937.1:p.Ile320Asn
NM_015665.5:c.1058T>A	NP_056480.1:p.Ile353Asn
XM_006719617.2:c.1073T>A	XP_006719680.1:p.Ile358Asn
XM_011538777.1:c.1073T>A	XP_011537079.1:p.Ile358Asn
XM_011538778.1:c.1058T>A	XP_011537080.1:p.Ile353Asn
XM_011538779.1:c.974T>A	XP_011537081.1:p.Ile325Asn
XM_011538780.1:c.959T>A	XP_011537082.1:p.Ile320Asn
XM_011538781.1:c.407T>A	XP_011537083.1:p.Ile136Asn
XM_011538778.2:c.1058T>A	XP_011537080.1:p.Ile353Asn
XM_011538780.2:c.959T>A	XP_011537082.1:p.Ile320Asn
XR_001748875.2:n.1115T>A
NM_015665.6:c.1058T>A MANE Select	NP_056480.1:p.Ile353Asn
NM_001173466.2:c.959T>A	NP_001166937.1:p.Ile320Asn