Canonical Allele Identifier: CA2036910117

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308780C= , CM000674.2:g.53308780C=	GRCh38
NC_000012.11:g.53702564C= , CM000674.1:g.53702564C=	GRCh37
NC_000012.10:g.51988831C=	NCBI36
NG_016775.1:g.17849G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1032G= MANE Select	ENSP00000209873.4:p.Leu344=
ENST00000546393.7:n.1877G=
ENST00000546562.6:n.2096G=
ENST00000547238.6:n.1668G=
ENST00000547520.6:n.1026G=
ENST00000547757.2:c.81G=	ENSP00000448020.2:p.Leu27=
ENST00000548880.2:n.1482G=
ENST00000548931.6:c.552G=	ENSP00000457518.1:p.Leu184=
ENST00000549450.6:n.966G=
ENST00000552161.6:n.1988G=
ENST00000672797.1:n.1521G=
ENST00000672900.1:n.1974G=
ENST00000209873.8:c.1032G=	ENSP00000209873.4:p.Leu344=
ENST00000394384.7:c.933G=	ENSP00000377908.3:p.Leu311=
ENST00000547520.5:n.736G=
ENST00000548931.5:c.552G=	ENSP00000457518.1:p.Leu184=
ENST00000550033.5:n.287G=
ENST00000550286.5:c.660G=	ENSP00000446885.1:p.Leu220=
ENST00000552876.5:n.1375G=
NM_001173466.1:c.933G=	NP_001166937.1:p.Leu311=
NM_015665.5:c.1032G=	NP_056480.1:p.Leu344=
XM_006719617.2:c.1047G=	XP_006719680.1:p.Leu349=
XM_006719619.2:c.*42G=	XP_006719682.1:n.*42G=
XM_011538777.1:c.1047G=	XP_011537079.1:p.Leu349=
XM_011538778.1:c.1032G=	XP_011537080.1:p.Leu344=
XM_011538779.1:c.948G=	XP_011537081.1:p.Leu316=
XM_011538780.1:c.933G=	XP_011537082.1:p.Leu311=
XM_011538781.1:c.381G=	XP_011537083.1:p.Leu127=
XM_011538778.2:c.1032G=	XP_011537080.1:p.Leu344=
XM_011538780.2:c.933G=	XP_011537082.1:p.Leu311=
XR_001748875.2:n.1089G=
NM_015665.6:c.1032G= MANE Select	NP_056480.1:p.Leu344=
NM_001173466.2:c.933G=	NP_001166937.1:p.Leu311=