Canonical Allele Identifier: CA385040401

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702539T>G (hg19) ; chr12:g.53308755T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308755T>G , CM000674.2:g.53308755T>G	GRCh38
NC_000012.11:g.53702539T>G , CM000674.1:g.53702539T>G	GRCh37
NC_000012.10:g.51988806T>G	NCBI36
NG_016775.1:g.17874A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1057A>C MANE Select	ENSP00000209873.4:p.Ile353Leu
ENST00000546562.6:n.2121A>C
ENST00000547238.6:n.1693A>C
ENST00000547520.6:n.1051A>C
ENST00000547757.2:c.106A>C	ENSP00000448020.2:p.Ile36Leu
ENST00000548880.2:n.1507A>C
ENST00000548931.6:c.577A>C	ENSP00000457518.1:p.Ile193Leu
ENST00000549450.6:n.991A>C
ENST00000552161.6:n.2013A>C
ENST00000672797.1:n.1546A>C
ENST00000672900.1:n.1999A>C
ENST00000209873.8:c.1057A>C	ENSP00000209873.4:p.Ile353Leu
ENST00000394384.7:c.958A>C	ENSP00000377908.3:p.Ile320Leu
ENST00000547520.5:n.761A>C
ENST00000548931.5:c.577A>C	ENSP00000457518.1:p.Ile193Leu
ENST00000550033.5:n.312A>C
ENST00000550286.5:c.685A>C	ENSP00000446885.1:p.Ile229Leu
ENST00000552876.5:n.1400A>C
NM_001173466.1:c.958A>C	NP_001166937.1:p.Ile320Leu
NM_015665.5:c.1057A>C	NP_056480.1:p.Ile353Leu
XM_006719617.2:c.1072A>C	XP_006719680.1:p.Ile358Leu
XM_011538777.1:c.1072A>C	XP_011537079.1:p.Ile358Leu
XM_011538778.1:c.1057A>C	XP_011537080.1:p.Ile353Leu
XM_011538779.1:c.973A>C	XP_011537081.1:p.Ile325Leu
XM_011538780.1:c.958A>C	XP_011537082.1:p.Ile320Leu
XM_011538781.1:c.406A>C	XP_011537083.1:p.Ile136Leu
XM_011538778.2:c.1057A>C	XP_011537080.1:p.Ile353Leu
XM_011538780.2:c.958A>C	XP_011537082.1:p.Ile320Leu
XR_001748875.2:n.1114A>C
NM_015665.6:c.1057A>C MANE Select	NP_056480.1:p.Ile353Leu
NM_001173466.2:c.958A>C	NP_001166937.1:p.Ile320Leu