Canonical Allele Identifier: CA385035141

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701375A>G (hg19) ; chr12:g.53307591A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307591A>G , CM000674.2:g.53307591A>G	GRCh38
NC_000012.11:g.53701375A>G , CM000674.1:g.53701375A>G	GRCh37
NC_000012.10:g.51987642A>G	NCBI36
NG_016775.1:g.19038T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1539T>C MANE Select	ENSP00000209873.4:p.His513=
ENST00000546562.6:n.2603T>C
ENST00000547238.6:n.2175T>C
ENST00000547520.6:n.1655T>C
ENST00000547757.2:c.*457T>C	ENSP00000448020.2:n.*457T>C
ENST00000548931.6:c.974T>C	ENSP00000457518.1:p.Met325Thr
ENST00000549450.6:n.1473T>C
ENST00000672797.1:n.2028T>C
ENST00000209873.8:c.1539T>C	ENSP00000209873.4:p.His513=
ENST00000394384.7:c.1440T>C	ENSP00000377908.3:p.His480=
ENST00000548931.5:c.974T>C	ENSP00000457518.1:p.Met325Thr
ENST00000550286.5:c.1167T>C	ENSP00000446885.1:p.His389=
ENST00000552876.5:n.1882T>C
NM_001173466.1:c.1440T>C	NP_001166937.1:p.His480=
NM_015665.5:c.1539T>C	NP_056480.1:p.His513=
XM_006719617.2:c.1554T>C	XP_006719680.1:p.His518=
XM_011538777.1:c.1596T>C	XP_011537079.1:p.His532=
XM_011538778.1:c.1581T>C	XP_011537080.1:p.His527=
XM_011538779.1:c.1497T>C	XP_011537081.1:p.His499=
XM_011538780.1:c.1482T>C	XP_011537082.1:p.His494=
XM_011538781.1:c.930T>C	XP_011537083.1:p.His310=
XM_011538778.2:c.1581T>C	XP_011537080.1:p.His527=
XM_011538780.2:c.1482T>C	XP_011537082.1:p.His494=
XR_001748875.2:n.1596T>C
NM_015665.6:c.1539T>C MANE Select	NP_056480.1:p.His513=
NM_001173466.2:c.1440T>C	NP_001166937.1:p.His480=