Canonical Allele Identifier: CA2036910080

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308696C= , CM000674.2:g.53308696C=	GRCh38
NC_000012.11:g.53702480C= , CM000674.1:g.53702480C=	GRCh37
NC_000012.10:g.51988747C=	NCBI36
NG_016775.1:g.17933G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1087+29G= MANE Select	ENSP00000209873.4:n.1087+29G=
ENST00000546562.6:n.2151+29G=
ENST00000547238.6:n.1723+29G=
ENST00000547520.6:n.1081+29G=
ENST00000547757.2:c.136+29G=	ENSP00000448020.2:n.136+29G=
ENST00000548880.2:n.1537+29G=
ENST00000548931.6:c.607+29G=	ENSP00000457518.1:n.607+29G=
ENST00000549450.6:n.1021+29G=
ENST00000552161.6:n.2043+29G=
ENST00000672797.1:n.1576+29G=
ENST00000672900.1:n.2029+29G=
ENST00000209873.8:c.1087+29G=	ENSP00000209873.4:n.1087+29G=
ENST00000394384.7:c.988+29G=	ENSP00000377908.3:n.988+29G=
ENST00000548931.5:c.607+29G=	ENSP00000457518.1:n.607+29G=
ENST00000550033.5:n.342+29G=
ENST00000550286.5:c.715+29G=	ENSP00000446885.1:n.715+29G=
ENST00000552876.5:n.1430+29G=
NM_001173466.1:c.988+29G=	NP_001166937.1:n.988+29G=
NM_015665.5:c.1087+29G=	NP_056480.1:n.1087+29G=
XM_006719617.2:c.1102+29G=	XP_006719680.1:n.1102+29G=
XM_011538777.1:c.1102+29G=	XP_011537079.1:n.1102+29G=
XM_011538778.1:c.1087+29G=	XP_011537080.1:n.1087+29G=
XM_011538779.1:c.1003+29G=	XP_011537081.1:n.1003+29G=
XM_011538780.1:c.988+29G=	XP_011537082.1:n.988+29G=
XM_011538781.1:c.436+29G=	XP_011537083.1:n.436+29G=
XM_011538778.2:c.1087+29G=	XP_011537080.1:n.1087+29G=
XM_011538780.2:c.988+29G=	XP_011537082.1:n.988+29G=
XR_001748875.2:n.1144+29G=
NM_015665.6:c.1087+29G= MANE Select	NP_056480.1:n.1087+29G=
NM_001173466.2:c.988+29G=	NP_001166937.1:n.988+29G=