Canonical Allele Identifier: CA385034939

Gene: AAAS

Linked Data

• dbSNP Id: rs1944305442
• gnomAD v4: 12-53307565-G-T
• MyVariant Identifiers: chr12:g.53701349G>T (hg19) ; chr12:g.53307565G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307565G>T , CM000674.2:g.53307565G>T	GRCh38
NC_000012.11:g.53701349G>T , CM000674.1:g.53701349G>T	GRCh37
NC_000012.10:g.51987616G>T	NCBI36
NG_016775.1:g.19064C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1565C>A MANE Select	ENSP00000209873.4:p.Ser522Tyr
ENST00000546562.6:n.2629C>A
ENST00000547238.6:n.2201C>A
ENST00000547520.6:n.1681C>A
ENST00000547757.2:c.*483C>A	ENSP00000448020.2:n.*483C>A
ENST00000548931.6:c.1000C>A	ENSP00000457518.1:p.Pro334Thr
ENST00000549450.6:n.1499C>A
ENST00000672797.1:n.2054C>A
ENST00000209873.8:c.1565C>A	ENSP00000209873.4:p.Ser522Tyr
ENST00000394384.7:c.1466C>A	ENSP00000377908.3:p.Ser489Tyr
ENST00000548931.5:c.1000C>A	ENSP00000457518.1:p.Pro334Thr
ENST00000550286.5:c.1193C>A	ENSP00000446885.1:p.Ser398Tyr
ENST00000552876.5:n.1908C>A
NM_001173466.1:c.1466C>A	NP_001166937.1:p.Ser489Tyr
NM_015665.5:c.1565C>A	NP_056480.1:p.Ser522Tyr
XM_006719617.2:c.1580C>A	XP_006719680.1:p.Ser527Tyr
XM_011538777.1:c.1622C>A	XP_011537079.1:p.Ser541Tyr
XM_011538778.1:c.1607C>A	XP_011537080.1:p.Ser536Tyr
XM_011538779.1:c.1523C>A	XP_011537081.1:p.Ser508Tyr
XM_011538780.1:c.1508C>A	XP_011537082.1:p.Ser503Tyr
XM_011538781.1:c.956C>A	XP_011537083.1:p.Ser319Tyr
XM_011538778.2:c.1607C>A	XP_011537080.1:p.Ser536Tyr
XM_011538780.2:c.1508C>A	XP_011537082.1:p.Ser503Tyr
XR_001748875.2:n.1622C>A
NM_015665.6:c.1565C>A MANE Select	NP_056480.1:p.Ser522Tyr
NM_001173466.2:c.1466C>A	NP_001166937.1:p.Ser489Tyr