Canonical Allele Identifier: CA2036909750

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308049T= , CM000674.2:g.53308049T=	GRCh38
NC_000012.11:g.53701833T= , CM000674.1:g.53701833T=	GRCh37
NC_000012.10:g.51988100T=	NCBI36
NG_016775.1:g.18580A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1331+3A= MANE Select	ENSP00000209873.4:n.1331+3A=
ENST00000546562.6:n.2395+3A=
ENST00000547238.6:n.1967+3A=
ENST00000547520.6:n.1328A=
ENST00000547757.2:c.383A=	ENSP00000448020.2:p.Ter128=
ENST00000548880.2:n.1781+3A=
ENST00000548931.6:c.851+3A=	ENSP00000457518.1:n.851+3A=
ENST00000549450.6:n.1265+3A=
ENST00000552161.6:n.2290A=
ENST00000672797.1:n.1820+3A=
ENST00000672900.1:n.2424A=
ENST00000209873.8:c.1331+3A=	ENSP00000209873.4:n.1331+3A=
ENST00000394384.7:c.1232+3A=	ENSP00000377908.3:n.1232+3A=
ENST00000548931.5:c.851+3A=	ENSP00000457518.1:n.851+3A=
ENST00000550033.5:n.589A=
ENST00000550286.5:c.959+3A=	ENSP00000446885.1:n.959+3A=
ENST00000552876.5:n.1674+3A=
NM_001173466.1:c.1232+3A=	NP_001166937.1:n.1232+3A=
NM_015665.5:c.1331+3A=	NP_056480.1:n.1331+3A=
XM_006719617.2:c.1346+3A=	XP_006719680.1:n.1346+3A=
XM_011538777.1:c.1346+3A=	XP_011537079.1:n.1346+3A=
XM_011538778.1:c.1331+3A=	XP_011537080.1:n.1331+3A=
XM_011538779.1:c.1247+3A=	XP_011537081.1:n.1247+3A=
XM_011538780.1:c.1232+3A=	XP_011537082.1:n.1232+3A=
XM_011538781.1:c.680+3A=	XP_011537083.1:n.680+3A=
XM_011538778.2:c.1331+3A=	XP_011537080.1:n.1331+3A=
XM_011538780.2:c.1232+3A=	XP_011537082.1:n.1232+3A=
XR_001748875.2:n.1388+3A=
NM_015665.6:c.1331+3A= MANE Select	NP_056480.1:n.1331+3A=
NM_001173466.2:c.1232+3A=	NP_001166937.1:n.1232+3A=