Canonical Allele Identifier: CA385040415

Gene: AAAS

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1055T>C MANE Select	ENSP00000209873.4:p.Leu352Pro
ENST00000546562.6:n.2119T>C
ENST00000547238.6:n.1691T>C
ENST00000547520.6:n.1049T>C
ENST00000547757.2:c.104T>C	ENSP00000448020.2:p.Leu35Pro
ENST00000548880.2:n.1505T>C
ENST00000548931.6:c.575T>C	ENSP00000457518.1:p.Leu192Pro
ENST00000549450.6:n.989T>C
ENST00000552161.6:n.2011T>C
ENST00000672797.1:n.1544T>C
ENST00000672900.1:n.1997T>C
ENST00000209873.8:c.1055T>C	ENSP00000209873.4:p.Leu352Pro
ENST00000394384.7:c.956T>C	ENSP00000377908.3:p.Leu319Pro
ENST00000547520.5:n.759T>C
ENST00000548931.5:c.575T>C	ENSP00000457518.1:p.Leu192Pro
ENST00000550033.5:n.310T>C
ENST00000550286.5:c.683T>C	ENSP00000446885.1:p.Leu228Pro
ENST00000552876.5:n.1398T>C
NM_001173466.1:c.956T>C	NP_001166937.1:p.Leu319Pro
NM_015665.5:c.1055T>C	NP_056480.1:p.Leu352Pro
XM_006719617.2:c.1070T>C	XP_006719680.1:p.Leu357Pro
XM_011538777.1:c.1070T>C	XP_011537079.1:p.Leu357Pro
XM_011538778.1:c.1055T>C	XP_011537080.1:p.Leu352Pro
XM_011538779.1:c.971T>C	XP_011537081.1:p.Leu324Pro
XM_011538780.1:c.956T>C	XP_011537082.1:p.Leu319Pro
XM_011538781.1:c.404T>C	XP_011537083.1:p.Leu135Pro
XM_011538778.2:c.1055T>C	XP_011537080.1:p.Leu352Pro
XM_011538780.2:c.956T>C	XP_011537082.1:p.Leu319Pro
XR_001748875.2:n.1112T>C
NM_015665.6:c.1055T>C MANE Select	NP_056480.1:p.Leu352Pro
NM_001173466.2:c.956T>C	NP_001166937.1:p.Leu319Pro