Canonical Allele Identifier: CA385040300

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702526G>T (hg19) ; chr12:g.53308742G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308742G>T , CM000674.2:g.53308742G>T	GRCh38
NC_000012.11:g.53702526G>T , CM000674.1:g.53702526G>T	GRCh37
NC_000012.10:g.51988793G>T	NCBI36
NG_016775.1:g.17887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1070C>A MANE Select	ENSP00000209873.4:p.Ser357Tyr
ENST00000546562.6:n.2134C>A
ENST00000547238.6:n.1706C>A
ENST00000547520.6:n.1064C>A
ENST00000547757.2:c.119C>A	ENSP00000448020.2:p.Ser40Tyr
ENST00000548880.2:n.1520C>A
ENST00000548931.6:c.590C>A	ENSP00000457518.1:p.Ser197Tyr
ENST00000549450.6:n.1004C>A
ENST00000552161.6:n.2026C>A
ENST00000672797.1:n.1559C>A
ENST00000672900.1:n.2012C>A
ENST00000209873.8:c.1070C>A	ENSP00000209873.4:p.Ser357Tyr
ENST00000394384.7:c.971C>A	ENSP00000377908.3:p.Ser324Tyr
ENST00000548931.5:c.590C>A	ENSP00000457518.1:p.Ser197Tyr
ENST00000550033.5:n.325C>A
ENST00000550286.5:c.698C>A	ENSP00000446885.1:p.Ser233Tyr
ENST00000552876.5:n.1413C>A
NM_001173466.1:c.971C>A	NP_001166937.1:p.Ser324Tyr
NM_015665.5:c.1070C>A	NP_056480.1:p.Ser357Tyr
XM_006719617.2:c.1085C>A	XP_006719680.1:p.Ser362Tyr
XM_011538777.1:c.1085C>A	XP_011537079.1:p.Ser362Tyr
XM_011538778.1:c.1070C>A	XP_011537080.1:p.Ser357Tyr
XM_011538779.1:c.986C>A	XP_011537081.1:p.Ser329Tyr
XM_011538780.1:c.971C>A	XP_011537082.1:p.Ser324Tyr
XM_011538781.1:c.419C>A	XP_011537083.1:p.Ser140Tyr
XM_011538778.2:c.1070C>A	XP_011537080.1:p.Ser357Tyr
XM_011538780.2:c.971C>A	XP_011537082.1:p.Ser324Tyr
XR_001748875.2:n.1127C>A
NM_015665.6:c.1070C>A MANE Select	NP_056480.1:p.Ser357Tyr
NM_001173466.2:c.971C>A	NP_001166937.1:p.Ser324Tyr