Canonical Allele Identifier: CA2036910126

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308798T= , CM000674.2:g.53308798T=	GRCh38
NC_000012.11:g.53702582T= , CM000674.1:g.53702582T=	GRCh37
NC_000012.10:g.51988849T=	NCBI36
NG_016775.1:g.17831A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1014A= MANE Select	ENSP00000209873.4:p.Pro338=
ENST00000546393.7:n.1859A=
ENST00000546562.6:n.2078A=
ENST00000547238.6:n.1650A=
ENST00000547520.6:n.1008A=
ENST00000547757.2:c.63A=	ENSP00000448020.2:p.Pro21=
ENST00000548880.2:n.1464A=
ENST00000548931.6:c.534A=	ENSP00000457518.1:p.Pro178=
ENST00000549450.6:n.948A=
ENST00000552161.6:n.1970A=
ENST00000672797.1:n.1503A=
ENST00000672900.1:n.1956A=
ENST00000209873.8:c.1014A=	ENSP00000209873.4:p.Pro338=
ENST00000394384.7:c.915A=	ENSP00000377908.3:p.Pro305=
ENST00000547520.5:n.718A=
ENST00000548931.5:c.534A=	ENSP00000457518.1:p.Pro178=
ENST00000550033.5:n.269A=
ENST00000550286.5:c.642A=	ENSP00000446885.1:p.Pro214=
ENST00000552876.5:n.1357A=
NM_001173466.1:c.915A=	NP_001166937.1:p.Pro305=
NM_015665.5:c.1014A=	NP_056480.1:p.Pro338=
XM_006719617.2:c.1029A=	XP_006719680.1:p.Pro343=
XM_006719619.2:c.*24A=	XP_006719682.1:n.*24A=
XM_011538777.1:c.1029A=	XP_011537079.1:p.Pro343=
XM_011538778.1:c.1014A=	XP_011537080.1:p.Pro338=
XM_011538779.1:c.930A=	XP_011537081.1:p.Pro310=
XM_011538780.1:c.915A=	XP_011537082.1:p.Pro305=
XM_011538781.1:c.363A=	XP_011537083.1:p.Pro121=
XM_011538778.2:c.1014A=	XP_011537080.1:p.Pro338=
XM_011538780.2:c.915A=	XP_011537082.1:p.Pro305=
XR_001748875.2:n.1071A=
NM_015665.6:c.1014A= MANE Select	NP_056480.1:p.Pro338=
NM_001173466.2:c.915A=	NP_001166937.1:p.Pro305=