Canonical Allele Identifier: CA385037214

Gene: AAAS

Linked Data

• dbSNP Id: rs1944310774
• MyVariant Identifiers: chr12:g.53701467G>C (hg19) ; chr12:g.53307683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307683G>C , CM000674.2:g.53307683G>C	GRCh38
NC_000012.11:g.53701467G>C , CM000674.1:g.53701467G>C	GRCh37
NC_000012.10:g.51987734G>C	NCBI36
NG_016775.1:g.18946C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1447C>G MANE Select	ENSP00000209873.4:p.Pro483Ala
ENST00000546562.6:n.2511C>G
ENST00000547238.6:n.2083C>G
ENST00000547520.6:n.1563C>G
ENST00000547757.2:c.*365C>G	ENSP00000448020.2:n.*365C>G
ENST00000548880.2:n.1897C>G
ENST00000548931.6:c.882C>G	ENSP00000457518.1:p.Ser294=
ENST00000549450.6:n.1381C>G
ENST00000552161.6:n.2525C>G
ENST00000672797.1:n.1936C>G
ENST00000209873.8:c.1447C>G	ENSP00000209873.4:p.Pro483Ala
ENST00000394384.7:c.1348C>G	ENSP00000377908.3:p.Pro450Ala
ENST00000548931.5:c.882C>G	ENSP00000457518.1:p.Ser294=
ENST00000550286.5:c.1075C>G	ENSP00000446885.1:p.Pro359Ala
ENST00000552876.5:n.1790C>G
NM_001173466.1:c.1348C>G	NP_001166937.1:p.Pro450Ala
NM_015665.5:c.1447C>G	NP_056480.1:p.Pro483Ala
XM_006719617.2:c.1462C>G	XP_006719680.1:p.Pro488Ala
XM_011538777.1:c.1504C>G	XP_011537079.1:p.Pro502Ala
XM_011538778.1:c.1489C>G	XP_011537080.1:p.Pro497Ala
XM_011538779.1:c.1405C>G	XP_011537081.1:p.Pro469Ala
XM_011538780.1:c.1390C>G	XP_011537082.1:p.Pro464Ala
XM_011538781.1:c.838C>G	XP_011537083.1:p.Pro280Ala
XM_011538778.2:c.1489C>G	XP_011537080.1:p.Pro497Ala
XM_011538780.2:c.1390C>G	XP_011537082.1:p.Pro464Ala
XR_001748875.2:n.1504C>G
NM_015665.6:c.1447C>G MANE Select	NP_056480.1:p.Pro483Ala
NM_001173466.2:c.1348C>G	NP_001166937.1:p.Pro450Ala