Canonical Allele Identifier: CA385036737

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307639-C-T
• MyVariant Identifiers: chr12:g.53701423C>T (hg19) ; chr12:g.53307639C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307639C>T , CM000674.2:g.53307639C>T	GRCh38
NC_000012.11:g.53701423C>T , CM000674.1:g.53701423C>T	GRCh37
NC_000012.10:g.51987690C>T	NCBI36
NG_016775.1:g.18990G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1491G>A MANE Select	ENSP00000209873.4:p.Val497=
ENST00000546562.6:n.2555G>A
ENST00000547238.6:n.2127G>A
ENST00000547520.6:n.1607G>A
ENST00000547757.2:c.*409G>A	ENSP00000448020.2:n.*409G>A
ENST00000548931.6:c.926G>A	ENSP00000457518.1:p.Cys309Tyr
ENST00000549450.6:n.1425G>A
ENST00000672797.1:n.1980G>A
ENST00000209873.8:c.1491G>A	ENSP00000209873.4:p.Val497=
ENST00000394384.7:c.1392G>A	ENSP00000377908.3:p.Val464=
ENST00000548931.5:c.926G>A	ENSP00000457518.1:p.Cys309Tyr
ENST00000550286.5:c.1119G>A	ENSP00000446885.1:p.Val373=
ENST00000552876.5:n.1834G>A
NM_001173466.1:c.1392G>A	NP_001166937.1:p.Val464=
NM_015665.5:c.1491G>A	NP_056480.1:p.Val497=
XM_006719617.2:c.1506G>A	XP_006719680.1:p.Val502=
XM_011538777.1:c.1548G>A	XP_011537079.1:p.Val516=
XM_011538778.1:c.1533G>A	XP_011537080.1:p.Val511=
XM_011538779.1:c.1449G>A	XP_011537081.1:p.Val483=
XM_011538780.1:c.1434G>A	XP_011537082.1:p.Val478=
XM_011538781.1:c.882G>A	XP_011537083.1:p.Val294=
XM_011538778.2:c.1533G>A	XP_011537080.1:p.Val511=
XM_011538780.2:c.1434G>A	XP_011537082.1:p.Val478=
XR_001748875.2:n.1548G>A
NM_015665.6:c.1491G>A MANE Select	NP_056480.1:p.Val497=
NM_001173466.2:c.1392G>A	NP_001166937.1:p.Val464=