Canonical Allele Identifier: CA2036910231

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309005C= , CM000674.2:g.53309005C=	GRCh38
NC_000012.11:g.53702789C= , CM000674.1:g.53702789C=	GRCh37
NC_000012.10:g.51989056C=	NCBI36
NG_016775.1:g.17624G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.951G= MANE Select	ENSP00000209873.4:p.Gln317=
ENST00000546393.7:n.1796G=
ENST00000546562.6:n.2015G=
ENST00000547238.6:n.1587G=
ENST00000547520.6:n.945G=
ENST00000547757.2:c.-1G=	ENSP00000448020.2:n.-1G=
ENST00000548880.2:n.1401G=
ENST00000548931.6:c.471G=	ENSP00000457518.1:p.Gln157=
ENST00000549450.6:n.885G=
ENST00000552161.6:n.1907G=
ENST00000672797.1:n.1404G=
ENST00000672900.1:n.1749G=
ENST00000209873.8:c.951G=	ENSP00000209873.4:p.Gln317=
ENST00000394384.7:c.852G=	ENSP00000377908.3:p.Gln284=
ENST00000546572.1:n.539G=
ENST00000547520.5:n.655G=
ENST00000548931.5:c.471G=	ENSP00000457518.1:p.Gln157=
ENST00000550033.5:n.206G=
ENST00000550286.5:c.579G=	ENSP00000446885.1:p.Gln193=
ENST00000552876.5:n.1294G=
NM_001173466.1:c.852G=	NP_001166937.1:p.Gln284=
NM_015665.5:c.951G=	NP_056480.1:p.Gln317=
XM_006719617.2:c.966G=	XP_006719680.1:p.Gln322=
XM_006719619.2:c.966G=	XP_006719682.1:p.Gln322=
XM_011538777.1:c.966G=	XP_011537079.1:p.Gln322=
XM_011538778.1:c.951G=	XP_011537080.1:p.Gln317=
XM_011538779.1:c.867G=	XP_011537081.1:p.Gln289=
XM_011538780.1:c.852G=	XP_011537082.1:p.Gln284=
XM_011538781.1:c.300G=	XP_011537083.1:p.Gln100=
XM_011538778.2:c.951G=	XP_011537080.1:p.Gln317=
XM_011538780.2:c.852G=	XP_011537082.1:p.Gln284=
XR_001748875.2:n.972G=
NM_015665.6:c.951G= MANE Select	NP_056480.1:p.Gln317=
NM_001173466.2:c.852G=	NP_001166937.1:p.Gln284=