Canonical Allele Identifier: CA10642826

Gene: AAAS

Linked Data

• ClinVar Variation Id: 309720
• ClinVar RCV Id: RCV000284339 ; RCV003708513
• dbSNP Id: rs886049648
• gnomAD v4: 12-53307564-G-A
• MyVariant Identifiers: chr12:g.53701348G>A (hg19) ; chr12:g.53307564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307564G>A , CM000674.2:g.53307564G>A	GRCh38
NC_000012.11:g.53701348G>A , CM000674.1:g.53701348G>A	GRCh37
NC_000012.10:g.51987615G>A	NCBI36
NG_016775.1:g.19065C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1566C>T MANE Select	ENSP00000209873.4:p.Ser522=
ENST00000546562.6:n.2630C>T
ENST00000547238.6:n.2202C>T
ENST00000547520.6:n.1682C>T
ENST00000547757.2:c.*484C>T	ENSP00000448020.2:n.*484C>T
ENST00000548931.6:c.1001C>T	ENSP00000457518.1:p.Pro334Leu
ENST00000549450.6:n.1500C>T
ENST00000672797.1:n.2055C>T
ENST00000209873.8:c.1566C>T	ENSP00000209873.4:p.Ser522=
ENST00000394384.7:c.1467C>T	ENSP00000377908.3:p.Ser489=
ENST00000548931.5:c.1001C>T	ENSP00000457518.1:p.Pro334Leu
ENST00000550286.5:c.1194C>T	ENSP00000446885.1:p.Ser398=
ENST00000552876.5:n.1909C>T
NM_001173466.1:c.1467C>T	NP_001166937.1:p.Ser489=
NM_015665.5:c.1566C>T	NP_056480.1:p.Ser522=
XM_006719617.2:c.1581C>T	XP_006719680.1:p.Ser527=
XM_011538777.1:c.1623C>T	XP_011537079.1:p.Ser541=
XM_011538778.1:c.1608C>T	XP_011537080.1:p.Ser536=
XM_011538779.1:c.1524C>T	XP_011537081.1:p.Ser508=
XM_011538780.1:c.1509C>T	XP_011537082.1:p.Ser503=
XM_011538781.1:c.957C>T	XP_011537083.1:p.Ser319=
XM_011538778.2:c.1608C>T	XP_011537080.1:p.Ser536=
XM_011538780.2:c.1509C>T	XP_011537082.1:p.Ser503=
XR_001748875.2:n.1623C>T
NM_015665.6:c.1566C>T MANE Select	NP_056480.1:p.Ser522=
NM_001173466.2:c.1467C>T	NP_001166937.1:p.Ser489=