Canonical Allele Identifier: CA2036909590

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307705G= , CM000674.2:g.53307705G=	GRCh38
NC_000012.11:g.53701489G= , CM000674.1:g.53701489G=	GRCh37
NC_000012.10:g.51987756G=	NCBI36
NG_016775.1:g.18924C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1425C= MANE Select	ENSP00000209873.4:p.Ser475=
ENST00000546562.6:n.2489C=
ENST00000547238.6:n.2061C=
ENST00000547520.6:n.1541C=
ENST00000547757.2:c.*343C=	ENSP00000448020.2:n.*343C=
ENST00000548880.2:n.1875C=
ENST00000548931.6:c.860C=	ENSP00000457518.1:p.Pro287=
ENST00000549450.6:n.1359C=
ENST00000552161.6:n.2503C=
ENST00000672797.1:n.1914C=
ENST00000209873.8:c.1425C=	ENSP00000209873.4:p.Ser475=
ENST00000394384.7:c.1326C=	ENSP00000377908.3:p.Ser442=
ENST00000548931.5:c.860C=	ENSP00000457518.1:p.Pro287=
ENST00000550286.5:c.1053C=	ENSP00000446885.1:p.Ser351=
ENST00000552876.5:n.1768C=
NM_001173466.1:c.1326C=	NP_001166937.1:p.Ser442=
NM_015665.5:c.1425C=	NP_056480.1:p.Ser475=
XM_006719617.2:c.1440C=	XP_006719680.1:p.Ser480=
XM_011538777.1:c.1482C=	XP_011537079.1:p.Ser494=
XM_011538778.1:c.1467C=	XP_011537080.1:p.Ser489=
XM_011538779.1:c.1383C=	XP_011537081.1:p.Ser461=
XM_011538780.1:c.1368C=	XP_011537082.1:p.Ser456=
XM_011538781.1:c.816C=	XP_011537083.1:p.Ser272=
XM_011538778.2:c.1467C=	XP_011537080.1:p.Ser489=
XM_011538780.2:c.1368C=	XP_011537082.1:p.Ser456=
XR_001748875.2:n.1482C=
NM_015665.6:c.1425C= MANE Select	NP_056480.1:p.Ser475=
NM_001173466.2:c.1326C=	NP_001166937.1:p.Ser442=