Canonical Allele Identifier: CA2036910129

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308804C= , CM000674.2:g.53308804C=	GRCh38
NC_000012.11:g.53702588C= , CM000674.1:g.53702588C=	GRCh37
NC_000012.10:g.51988855C=	NCBI36
NG_016775.1:g.17825G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1008G= MANE Select	ENSP00000209873.4:p.Trp336=
ENST00000546393.7:n.1853G=
ENST00000546562.6:n.2072G=
ENST00000547238.6:n.1644G=
ENST00000547520.6:n.1002G=
ENST00000547757.2:c.57G=	ENSP00000448020.2:p.Trp19=
ENST00000548880.2:n.1458G=
ENST00000548931.6:c.528G=	ENSP00000457518.1:p.Trp176=
ENST00000549450.6:n.942G=
ENST00000552161.6:n.1964G=
ENST00000672797.1:n.1497G=
ENST00000672900.1:n.1950G=
ENST00000209873.8:c.1008G=	ENSP00000209873.4:p.Trp336=
ENST00000394384.7:c.909G=	ENSP00000377908.3:p.Trp303=
ENST00000547520.5:n.712G=
ENST00000548931.5:c.528G=	ENSP00000457518.1:p.Trp176=
ENST00000550033.5:n.263G=
ENST00000550286.5:c.636G=	ENSP00000446885.1:p.Trp212=
ENST00000552876.5:n.1351G=
NM_001173466.1:c.909G=	NP_001166937.1:p.Trp303=
NM_015665.5:c.1008G=	NP_056480.1:p.Trp336=
XM_006719617.2:c.1023G=	XP_006719680.1:p.Trp341=
XM_006719619.2:c.*18G=	XP_006719682.1:n.*18G=
XM_011538777.1:c.1023G=	XP_011537079.1:p.Trp341=
XM_011538778.1:c.1008G=	XP_011537080.1:p.Trp336=
XM_011538779.1:c.924G=	XP_011537081.1:p.Trp308=
XM_011538780.1:c.909G=	XP_011537082.1:p.Trp303=
XM_011538781.1:c.357G=	XP_011537083.1:p.Trp119=
XM_011538778.2:c.1008G=	XP_011537080.1:p.Trp336=
XM_011538780.2:c.909G=	XP_011537082.1:p.Trp303=
XR_001748875.2:n.1065G=
NM_015665.6:c.1008G= MANE Select	NP_056480.1:p.Trp336=
NM_001173466.2:c.909G=	NP_001166937.1:p.Trp303=