Canonical Allele Identifier: CA385034995

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701356C>T (hg19) ; chr12:g.53307572C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307572C>T , CM000674.2:g.53307572C>T	GRCh38
NC_000012.11:g.53701356C>T , CM000674.1:g.53701356C>T	GRCh37
NC_000012.10:g.51987623C>T	NCBI36
NG_016775.1:g.19057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1558G>A MANE Select	ENSP00000209873.4:p.Glu520Lys
ENST00000546562.6:n.2622G>A
ENST00000547238.6:n.2194G>A
ENST00000547520.6:n.1674G>A
ENST00000547757.2:c.*476G>A	ENSP00000448020.2:n.*476G>A
ENST00000548931.6:c.993G>A	ENSP00000457518.1:p.Leu331=
ENST00000549450.6:n.1492G>A
ENST00000672797.1:n.2047G>A
ENST00000209873.8:c.1558G>A	ENSP00000209873.4:p.Glu520Lys
ENST00000394384.7:c.1459G>A	ENSP00000377908.3:p.Glu487Lys
ENST00000548931.5:c.993G>A	ENSP00000457518.1:p.Leu331=
ENST00000550286.5:c.1186G>A	ENSP00000446885.1:p.Glu396Lys
ENST00000552876.5:n.1901G>A
NM_001173466.1:c.1459G>A	NP_001166937.1:p.Glu487Lys
NM_015665.5:c.1558G>A	NP_056480.1:p.Glu520Lys
XM_006719617.2:c.1573G>A	XP_006719680.1:p.Glu525Lys
XM_011538777.1:c.1615G>A	XP_011537079.1:p.Glu539Lys
XM_011538778.1:c.1600G>A	XP_011537080.1:p.Glu534Lys
XM_011538779.1:c.1516G>A	XP_011537081.1:p.Glu506Lys
XM_011538780.1:c.1501G>A	XP_011537082.1:p.Glu501Lys
XM_011538781.1:c.949G>A	XP_011537083.1:p.Glu317Lys
XM_011538778.2:c.1600G>A	XP_011537080.1:p.Glu534Lys
XM_011538780.2:c.1501G>A	XP_011537082.1:p.Glu501Lys
XR_001748875.2:n.1615G>A
NM_015665.6:c.1558G>A MANE Select	NP_056480.1:p.Glu520Lys
NM_001173466.2:c.1459G>A	NP_001166937.1:p.Glu487Lys