Canonical Allele Identifier: CA385037220

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701468G>A (hg19) ; chr12:g.53307684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307684G>A , CM000674.2:g.53307684G>A	GRCh38
NC_000012.11:g.53701468G>A , CM000674.1:g.53701468G>A	GRCh37
NC_000012.10:g.51987735G>A	NCBI36
NG_016775.1:g.18945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1446C>T MANE Select	ENSP00000209873.4:p.Ile482=
ENST00000546562.6:n.2510C>T
ENST00000547238.6:n.2082C>T
ENST00000547520.6:n.1562C>T
ENST00000547757.2:c.*364C>T	ENSP00000448020.2:n.*364C>T
ENST00000548880.2:n.1896C>T
ENST00000548931.6:c.881C>T	ENSP00000457518.1:p.Ser294Phe
ENST00000549450.6:n.1380C>T
ENST00000552161.6:n.2524C>T
ENST00000672797.1:n.1935C>T
ENST00000209873.8:c.1446C>T	ENSP00000209873.4:p.Ile482=
ENST00000394384.7:c.1347C>T	ENSP00000377908.3:p.Ile449=
ENST00000548931.5:c.881C>T	ENSP00000457518.1:p.Ser294Phe
ENST00000550286.5:c.1074C>T	ENSP00000446885.1:p.Ile358=
ENST00000552876.5:n.1789C>T
NM_001173466.1:c.1347C>T	NP_001166937.1:p.Ile449=
NM_015665.5:c.1446C>T	NP_056480.1:p.Ile482=
XM_006719617.2:c.1461C>T	XP_006719680.1:p.Ile487=
XM_011538777.1:c.1503C>T	XP_011537079.1:p.Ile501=
XM_011538778.1:c.1488C>T	XP_011537080.1:p.Ile496=
XM_011538779.1:c.1404C>T	XP_011537081.1:p.Ile468=
XM_011538780.1:c.1389C>T	XP_011537082.1:p.Ile463=
XM_011538781.1:c.837C>T	XP_011537083.1:p.Ile279=
XM_011538778.2:c.1488C>T	XP_011537080.1:p.Ile496=
XM_011538780.2:c.1389C>T	XP_011537082.1:p.Ile463=
XR_001748875.2:n.1503C>T
NM_015665.6:c.1446C>T MANE Select	NP_056480.1:p.Ile482=
NM_001173466.2:c.1347C>T	NP_001166937.1:p.Ile449=