Canonical Allele Identifier: CA385035112

Gene: AAAS

Linked Data

• dbSNP Id: rs1944305864
• gnomAD v3: 12-53307588-G-A
• gnomAD v4: 12-53307588-G-A
• MyVariant Identifiers: chr12:g.53701372G>A (hg19) ; chr12:g.53307588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307588G>A , CM000674.2:g.53307588G>A	GRCh38
NC_000012.11:g.53701372G>A , CM000674.1:g.53701372G>A	GRCh37
NC_000012.10:g.51987639G>A	NCBI36
NG_016775.1:g.19041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1542C>T MANE Select	ENSP00000209873.4:p.Asp514=
ENST00000546562.6:n.2606C>T
ENST00000547238.6:n.2178C>T
ENST00000547520.6:n.1658C>T
ENST00000547757.2:c.*460C>T	ENSP00000448020.2:n.*460C>T
ENST00000548931.6:c.977C>T	ENSP00000457518.1:p.Thr326Ile
ENST00000549450.6:n.1476C>T
ENST00000672797.1:n.2031C>T
ENST00000209873.8:c.1542C>T	ENSP00000209873.4:p.Asp514=
ENST00000394384.7:c.1443C>T	ENSP00000377908.3:p.Asp481=
ENST00000548931.5:c.977C>T	ENSP00000457518.1:p.Thr326Ile
ENST00000550286.5:c.1170C>T	ENSP00000446885.1:p.Asp390=
ENST00000552876.5:n.1885C>T
NM_001173466.1:c.1443C>T	NP_001166937.1:p.Asp481=
NM_015665.5:c.1542C>T	NP_056480.1:p.Asp514=
XM_006719617.2:c.1557C>T	XP_006719680.1:p.Asp519=
XM_011538777.1:c.1599C>T	XP_011537079.1:p.Asp533=
XM_011538778.1:c.1584C>T	XP_011537080.1:p.Asp528=
XM_011538779.1:c.1500C>T	XP_011537081.1:p.Asp500=
XM_011538780.1:c.1485C>T	XP_011537082.1:p.Asp495=
XM_011538781.1:c.933C>T	XP_011537083.1:p.Asp311=
XM_011538778.2:c.1584C>T	XP_011537080.1:p.Asp528=
XM_011538780.2:c.1485C>T	XP_011537082.1:p.Asp495=
XR_001748875.2:n.1599C>T
NM_015665.6:c.1542C>T MANE Select	NP_056480.1:p.Asp514=
NM_001173466.2:c.1443C>T	NP_001166937.1:p.Asp481=