Canonical Allele Identifier: CA385036845

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701435A>T (hg19) ; chr12:g.53307651A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307651A>T , CM000674.2:g.53307651A>T	GRCh38
NC_000012.11:g.53701435A>T , CM000674.1:g.53701435A>T	GRCh37
NC_000012.10:g.51987702A>T	NCBI36
NG_016775.1:g.18978T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1479T>A MANE Select	ENSP00000209873.4:p.Arg493=
ENST00000546562.6:n.2543T>A
ENST00000547238.6:n.2115T>A
ENST00000547520.6:n.1595T>A
ENST00000547757.2:c.*397T>A	ENSP00000448020.2:n.*397T>A
ENST00000548880.2:n.1929T>A
ENST00000548931.6:c.914T>A	ENSP00000457518.1:p.Val305Asp
ENST00000549450.6:n.1413T>A
ENST00000552161.6:n.2557T>A
ENST00000672797.1:n.1968T>A
ENST00000209873.8:c.1479T>A	ENSP00000209873.4:p.Arg493=
ENST00000394384.7:c.1380T>A	ENSP00000377908.3:p.Arg460=
ENST00000548931.5:c.914T>A	ENSP00000457518.1:p.Val305Asp
ENST00000550286.5:c.1107T>A	ENSP00000446885.1:p.Arg369=
ENST00000552876.5:n.1822T>A
NM_001173466.1:c.1380T>A	NP_001166937.1:p.Arg460=
NM_015665.5:c.1479T>A	NP_056480.1:p.Arg493=
XM_006719617.2:c.1494T>A	XP_006719680.1:p.Arg498=
XM_011538777.1:c.1536T>A	XP_011537079.1:p.Arg512=
XM_011538778.1:c.1521T>A	XP_011537080.1:p.Arg507=
XM_011538779.1:c.1437T>A	XP_011537081.1:p.Arg479=
XM_011538780.1:c.1422T>A	XP_011537082.1:p.Arg474=
XM_011538781.1:c.870T>A	XP_011537083.1:p.Arg290=
XM_011538778.2:c.1521T>A	XP_011537080.1:p.Arg507=
XM_011538780.2:c.1422T>A	XP_011537082.1:p.Arg474=
XR_001748875.2:n.1536T>A
NM_015665.6:c.1479T>A MANE Select	NP_056480.1:p.Arg493=
NM_001173466.2:c.1380T>A	NP_001166937.1:p.Arg460=