Canonical Allele Identifier: CA2036910097

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308740A= , CM000674.2:g.53308740A=	GRCh38
NC_000012.11:g.53702524A= , CM000674.1:g.53702524A=	GRCh37
NC_000012.10:g.51988791A=	NCBI36
NG_016775.1:g.17889T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1072T= MANE Select	ENSP00000209873.4:p.Phe358=
ENST00000546562.6:n.2136T=
ENST00000547238.6:n.1708T=
ENST00000547520.6:n.1066T=
ENST00000547757.2:c.121T=	ENSP00000448020.2:p.Phe41=
ENST00000548880.2:n.1522T=
ENST00000548931.6:c.592T=	ENSP00000457518.1:p.Phe198=
ENST00000549450.6:n.1006T=
ENST00000552161.6:n.2028T=
ENST00000672797.1:n.1561T=
ENST00000672900.1:n.2014T=
ENST00000209873.8:c.1072T=	ENSP00000209873.4:p.Phe358=
ENST00000394384.7:c.973T=	ENSP00000377908.3:p.Phe325=
ENST00000548931.5:c.592T=	ENSP00000457518.1:p.Phe198=
ENST00000550033.5:n.327T=
ENST00000550286.5:c.700T=	ENSP00000446885.1:p.Phe234=
ENST00000552876.5:n.1415T=
NM_001173466.1:c.973T=	NP_001166937.1:p.Phe325=
NM_015665.5:c.1072T=	NP_056480.1:p.Phe358=
XM_006719617.2:c.1087T=	XP_006719680.1:p.Phe363=
XM_011538777.1:c.1087T=	XP_011537079.1:p.Phe363=
XM_011538778.1:c.1072T=	XP_011537080.1:p.Phe358=
XM_011538779.1:c.988T=	XP_011537081.1:p.Phe330=
XM_011538780.1:c.973T=	XP_011537082.1:p.Phe325=
XM_011538781.1:c.421T=	XP_011537083.1:p.Phe141=
XM_011538778.2:c.1072T=	XP_011537080.1:p.Phe358=
XM_011538780.2:c.973T=	XP_011537082.1:p.Phe325=
XR_001748875.2:n.1129T=
NM_015665.6:c.1072T= MANE Select	NP_056480.1:p.Phe358=
NM_001173466.2:c.973T=	NP_001166937.1:p.Phe325=