Canonical Allele Identifier: CA2036910224

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308993A= , CM000674.2:g.53308993A=	GRCh38
NC_000012.11:g.53702777A= , CM000674.1:g.53702777A=	GRCh37
NC_000012.10:g.51989044A=	NCBI36
NG_016775.1:g.17636T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.963T= MANE Select	ENSP00000209873.4:p.Cys321=
ENST00000546393.7:n.1808T=
ENST00000546562.6:n.2027T=
ENST00000547238.6:n.1599T=
ENST00000547520.6:n.957T=
ENST00000547757.2:c.12T=	ENSP00000448020.2:p.Cys4=
ENST00000548880.2:n.1413T=
ENST00000548931.6:c.483T=	ENSP00000457518.1:p.Cys161=
ENST00000549450.6:n.897T=
ENST00000552161.6:n.1919T=
ENST00000672797.1:n.1416T=
ENST00000672900.1:n.1761T=
ENST00000209873.8:c.963T=	ENSP00000209873.4:p.Cys321=
ENST00000394384.7:c.864T=	ENSP00000377908.3:p.Cys288=
ENST00000546572.1:n.551T=
ENST00000547520.5:n.667T=
ENST00000548931.5:c.483T=	ENSP00000457518.1:p.Cys161=
ENST00000550033.5:n.218T=
ENST00000550286.5:c.591T=	ENSP00000446885.1:p.Cys197=
ENST00000552876.5:n.1306T=
NM_001173466.1:c.864T=	NP_001166937.1:p.Cys288=
NM_015665.5:c.963T=	NP_056480.1:p.Cys321=
XM_006719617.2:c.978T=	XP_006719680.1:p.Cys326=
XM_006719619.2:c.978T=	XP_006719682.1:p.Cys326=
XM_011538777.1:c.978T=	XP_011537079.1:p.Cys326=
XM_011538778.1:c.963T=	XP_011537080.1:p.Cys321=
XM_011538779.1:c.879T=	XP_011537081.1:p.Cys293=
XM_011538780.1:c.864T=	XP_011537082.1:p.Cys288=
XM_011538781.1:c.312T=	XP_011537083.1:p.Cys104=
XM_011538778.2:c.963T=	XP_011537080.1:p.Cys321=
XM_011538780.2:c.864T=	XP_011537082.1:p.Cys288=
XR_001748875.2:n.984T=
NM_015665.6:c.963T= MANE Select	NP_056480.1:p.Cys321=
NM_001173466.2:c.864T=	NP_001166937.1:p.Cys288=