Canonical Allele Identifier: CA385040413

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702541A>C (hg19) ; chr12:g.53308757A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308757A>C , CM000674.2:g.53308757A>C	GRCh38
NC_000012.11:g.53702541A>C , CM000674.1:g.53702541A>C	GRCh37
NC_000012.10:g.51988808A>C	NCBI36
NG_016775.1:g.17872T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1055T>G MANE Select	ENSP00000209873.4:p.Leu352Arg
ENST00000546562.6:n.2119T>G
ENST00000547238.6:n.1691T>G
ENST00000547520.6:n.1049T>G
ENST00000547757.2:c.104T>G	ENSP00000448020.2:p.Leu35Arg
ENST00000548880.2:n.1505T>G
ENST00000548931.6:c.575T>G	ENSP00000457518.1:p.Leu192Arg
ENST00000549450.6:n.989T>G
ENST00000552161.6:n.2011T>G
ENST00000672797.1:n.1544T>G
ENST00000672900.1:n.1997T>G
ENST00000209873.8:c.1055T>G	ENSP00000209873.4:p.Leu352Arg
ENST00000394384.7:c.956T>G	ENSP00000377908.3:p.Leu319Arg
ENST00000547520.5:n.759T>G
ENST00000548931.5:c.575T>G	ENSP00000457518.1:p.Leu192Arg
ENST00000550033.5:n.310T>G
ENST00000550286.5:c.683T>G	ENSP00000446885.1:p.Leu228Arg
ENST00000552876.5:n.1398T>G
NM_001173466.1:c.956T>G	NP_001166937.1:p.Leu319Arg
NM_015665.5:c.1055T>G	NP_056480.1:p.Leu352Arg
XM_006719617.2:c.1070T>G	XP_006719680.1:p.Leu357Arg
XM_011538777.1:c.1070T>G	XP_011537079.1:p.Leu357Arg
XM_011538778.1:c.1055T>G	XP_011537080.1:p.Leu352Arg
XM_011538779.1:c.971T>G	XP_011537081.1:p.Leu324Arg
XM_011538780.1:c.956T>G	XP_011537082.1:p.Leu319Arg
XM_011538781.1:c.404T>G	XP_011537083.1:p.Leu135Arg
XM_011538778.2:c.1055T>G	XP_011537080.1:p.Leu352Arg
XM_011538780.2:c.956T>G	XP_011537082.1:p.Leu319Arg
XR_001748875.2:n.1112T>G
NM_015665.6:c.1055T>G MANE Select	NP_056480.1:p.Leu352Arg
NM_001173466.2:c.956T>G	NP_001166937.1:p.Leu319Arg