Canonical Allele Identifier: CA385040378

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702536A>G (hg19) ; chr12:g.53308752A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308752A>G , CM000674.2:g.53308752A>G	GRCh38
NC_000012.11:g.53702536A>G , CM000674.1:g.53702536A>G	GRCh37
NC_000012.10:g.51988803A>G	NCBI36
NG_016775.1:g.17877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1060T>C MANE Select	ENSP00000209873.4:p.Tyr354His
ENST00000546562.6:n.2124T>C
ENST00000547238.6:n.1696T>C
ENST00000547520.6:n.1054T>C
ENST00000547757.2:c.109T>C	ENSP00000448020.2:p.Tyr37His
ENST00000548880.2:n.1510T>C
ENST00000548931.6:c.580T>C	ENSP00000457518.1:p.Tyr194His
ENST00000549450.6:n.994T>C
ENST00000552161.6:n.2016T>C
ENST00000672797.1:n.1549T>C
ENST00000672900.1:n.2002T>C
ENST00000209873.8:c.1060T>C	ENSP00000209873.4:p.Tyr354His
ENST00000394384.7:c.961T>C	ENSP00000377908.3:p.Tyr321His
ENST00000547520.5:n.764T>C
ENST00000548931.5:c.580T>C	ENSP00000457518.1:p.Tyr194His
ENST00000550033.5:n.315T>C
ENST00000550286.5:c.688T>C	ENSP00000446885.1:p.Tyr230His
ENST00000552876.5:n.1403T>C
NM_001173466.1:c.961T>C	NP_001166937.1:p.Tyr321His
NM_015665.5:c.1060T>C	NP_056480.1:p.Tyr354His
XM_006719617.2:c.1075T>C	XP_006719680.1:p.Tyr359His
XM_011538777.1:c.1075T>C	XP_011537079.1:p.Tyr359His
XM_011538778.1:c.1060T>C	XP_011537080.1:p.Tyr354His
XM_011538779.1:c.976T>C	XP_011537081.1:p.Tyr326His
XM_011538780.1:c.961T>C	XP_011537082.1:p.Tyr321His
XM_011538781.1:c.409T>C	XP_011537083.1:p.Tyr137His
XM_011538778.2:c.1060T>C	XP_011537080.1:p.Tyr354His
XM_011538780.2:c.961T>C	XP_011537082.1:p.Tyr321His
XR_001748875.2:n.1117T>C
NM_015665.6:c.1060T>C MANE Select	NP_056480.1:p.Tyr354His
NM_001173466.2:c.961T>C	NP_001166937.1:p.Tyr321His