Canonical Allele Identifier: CA385037238

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701469A>C (hg19) ; chr12:g.53307685A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307685A>C , CM000674.2:g.53307685A>C	GRCh38
NC_000012.11:g.53701469A>C , CM000674.1:g.53701469A>C	GRCh37
NC_000012.10:g.51987736A>C	NCBI36
NG_016775.1:g.18944T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1445T>G MANE Select	ENSP00000209873.4:p.Ile482Ser
ENST00000546562.6:n.2509T>G
ENST00000547238.6:n.2081T>G
ENST00000547520.6:n.1561T>G
ENST00000547757.2:c.*363T>G	ENSP00000448020.2:n.*363T>G
ENST00000548880.2:n.1895T>G
ENST00000548931.6:c.880T>G	ENSP00000457518.1:p.Ser294Ala
ENST00000549450.6:n.1379T>G
ENST00000552161.6:n.2523T>G
ENST00000672797.1:n.1934T>G
ENST00000209873.8:c.1445T>G	ENSP00000209873.4:p.Ile482Ser
ENST00000394384.7:c.1346T>G	ENSP00000377908.3:p.Ile449Ser
ENST00000548931.5:c.880T>G	ENSP00000457518.1:p.Ser294Ala
ENST00000550286.5:c.1073T>G	ENSP00000446885.1:p.Ile358Ser
ENST00000552876.5:n.1788T>G
NM_001173466.1:c.1346T>G	NP_001166937.1:p.Ile449Ser
NM_015665.5:c.1445T>G	NP_056480.1:p.Ile482Ser
XM_006719617.2:c.1460T>G	XP_006719680.1:p.Ile487Ser
XM_011538777.1:c.1502T>G	XP_011537079.1:p.Ile501Ser
XM_011538778.1:c.1487T>G	XP_011537080.1:p.Ile496Ser
XM_011538779.1:c.1403T>G	XP_011537081.1:p.Ile468Ser
XM_011538780.1:c.1388T>G	XP_011537082.1:p.Ile463Ser
XM_011538781.1:c.836T>G	XP_011537083.1:p.Ile279Ser
XM_011538778.2:c.1487T>G	XP_011537080.1:p.Ile496Ser
XM_011538780.2:c.1388T>G	XP_011537082.1:p.Ile463Ser
XR_001748875.2:n.1502T>G
NM_015665.6:c.1445T>G MANE Select	NP_056480.1:p.Ile482Ser
NM_001173466.2:c.1346T>G	NP_001166937.1:p.Ile449Ser