Canonical Allele Identifier: CA385035339

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701408C>G (hg19) ; chr12:g.53307624C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307624C>G , CM000674.2:g.53307624C>G	GRCh38
NC_000012.11:g.53701408C>G , CM000674.1:g.53701408C>G	GRCh37
NC_000012.10:g.51987675C>G	NCBI36
NG_016775.1:g.19005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1506G>C MANE Select	ENSP00000209873.4:p.Gln502His
ENST00000546562.6:n.2570G>C
ENST00000547238.6:n.2142G>C
ENST00000547520.6:n.1622G>C
ENST00000547757.2:c.*424G>C	ENSP00000448020.2:n.*424G>C
ENST00000548931.6:c.941G>C	ENSP00000457518.1:p.Arg314Thr
ENST00000549450.6:n.1440G>C
ENST00000672797.1:n.1995G>C
ENST00000209873.8:c.1506G>C	ENSP00000209873.4:p.Gln502His
ENST00000394384.7:c.1407G>C	ENSP00000377908.3:p.Gln469His
ENST00000548931.5:c.941G>C	ENSP00000457518.1:p.Arg314Thr
ENST00000550286.5:c.1134G>C	ENSP00000446885.1:p.Gln378His
ENST00000552876.5:n.1849G>C
NM_001173466.1:c.1407G>C	NP_001166937.1:p.Gln469His
NM_015665.5:c.1506G>C	NP_056480.1:p.Gln502His
XM_006719617.2:c.1521G>C	XP_006719680.1:p.Gln507His
XM_011538777.1:c.1563G>C	XP_011537079.1:p.Gln521His
XM_011538778.1:c.1548G>C	XP_011537080.1:p.Gln516His
XM_011538779.1:c.1464G>C	XP_011537081.1:p.Gln488His
XM_011538780.1:c.1449G>C	XP_011537082.1:p.Gln483His
XM_011538781.1:c.897G>C	XP_011537083.1:p.Gln299His
XM_011538778.2:c.1548G>C	XP_011537080.1:p.Gln516His
XM_011538780.2:c.1449G>C	XP_011537082.1:p.Gln483His
XR_001748875.2:n.1563G>C
NM_015665.6:c.1506G>C MANE Select	NP_056480.1:p.Gln502His
NM_001173466.2:c.1407G>C	NP_001166937.1:p.Gln469His