Canonical Allele Identifier: CA385034808

Gene: AAAS

Linked Data

• dbSNP Id: rs565827893
• gnomAD v2: 12-53701332-A-T
• gnomAD v4: 12-53307548-A-T
• MyVariant Identifiers: chr12:g.53701332A>T (hg19) ; chr12:g.53307548A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307548A>T , CM000674.2:g.53307548A>T	GRCh38
NC_000012.11:g.53701332A>T , CM000674.1:g.53701332A>T	GRCh37
NC_000012.10:g.51987599A>T	NCBI36
NG_016775.1:g.19081T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1582T>A MANE Select	ENSP00000209873.4:p.Trp528Arg
ENST00000546562.6:n.2646T>A
ENST00000547238.6:n.2218T>A
ENST00000547520.6:n.1698T>A
ENST00000547757.2:c.*500T>A	ENSP00000448020.2:n.*500T>A
ENST00000548931.6:c.1017T>A	ENSP00000457518.1:p.Leu339=
ENST00000549450.6:n.1516T>A
ENST00000672797.1:n.2071T>A
ENST00000209873.8:c.1582T>A	ENSP00000209873.4:p.Trp528Arg
ENST00000394384.7:c.1483T>A	ENSP00000377908.3:p.Trp495Arg
ENST00000548931.5:c.1017T>A	ENSP00000457518.1:p.Leu339=
ENST00000550286.5:c.1210T>A	ENSP00000446885.1:p.Trp404Arg
ENST00000552876.5:n.1925T>A
NM_001173466.1:c.1483T>A	NP_001166937.1:p.Trp495Arg
NM_015665.5:c.1582T>A	NP_056480.1:p.Trp528Arg
XM_006719617.2:c.1597T>A	XP_006719680.1:p.Trp533Arg
XM_011538777.1:c.1639T>A	XP_011537079.1:p.Trp547Arg
XM_011538778.1:c.1624T>A	XP_011537080.1:p.Trp542Arg
XM_011538779.1:c.1540T>A	XP_011537081.1:p.Trp514Arg
XM_011538780.1:c.1525T>A	XP_011537082.1:p.Trp509Arg
XM_011538781.1:c.973T>A	XP_011537083.1:p.Trp325Arg
XM_011538778.2:c.1624T>A	XP_011537080.1:p.Trp542Arg
XM_011538780.2:c.1525T>A	XP_011537082.1:p.Trp509Arg
XR_001748875.2:n.1639T>A
NM_015665.6:c.1582T>A MANE Select	NP_056480.1:p.Trp528Arg
NM_001173466.2:c.1483T>A	NP_001166937.1:p.Trp495Arg