Canonical Allele Identifier: CA385041668

Gene: AAAS

Linked Data

• dbSNP Id: rs777806731
• MyVariant Identifiers: chr12:g.53702953G>C (hg19) ; chr12:g.53309169G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309169G>C , CM000674.2:g.53309169G>C	GRCh38
NC_000012.11:g.53702953G>C , CM000674.1:g.53702953G>C	GRCh37
NC_000012.10:g.51989220G>C	NCBI36
NG_016775.1:g.17460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.923C>G MANE Select	ENSP00000209873.4:p.Ser308Ter
ENST00000546393.7:n.1768C>G
ENST00000546562.6:n.1987C>G
ENST00000547238.6:n.1559C>G
ENST00000547520.6:n.917C>G
ENST00000547757.2:c.-29C>G	ENSP00000448020.2:n.-29C>G
ENST00000548880.2:n.1373C>G
ENST00000548931.6:c.443C>G	ENSP00000457518.1:p.Ser148Ter
ENST00000549450.6:n.857C>G
ENST00000552161.6:n.1879C>G
ENST00000672797.1:n.1376C>G
ENST00000672900.1:n.1721C>G
ENST00000209873.8:c.923C>G	ENSP00000209873.4:p.Ser308Ter
ENST00000394384.7:c.824C>G	ENSP00000377908.3:p.Ser275Ter
ENST00000546393.6:n.820C>G
ENST00000546572.1:n.375C>G
ENST00000547520.5:n.627C>G
ENST00000547757.1:c.824C>G	ENSP00000448020.1:p.Ser275Ter
ENST00000547761.6:n.815C>G
ENST00000548931.5:c.443C>G	ENSP00000457518.1:p.Ser148Ter
ENST00000550033.5:n.178C>G
ENST00000550286.5:c.551C>G	ENSP00000446885.1:p.Ser184Ter
ENST00000552876.5:n.1266C>G
NM_001173466.1:c.824C>G	NP_001166937.1:p.Ser275Ter
NM_015665.5:c.923C>G	NP_056480.1:p.Ser308Ter
XM_006719617.2:c.938C>G	XP_006719680.1:p.Ser313Ter
XM_006719619.2:c.938C>G	XP_006719682.1:p.Ser313Ter
XM_011538777.1:c.938C>G	XP_011537079.1:p.Ser313Ter
XM_011538778.1:c.923C>G	XP_011537080.1:p.Ser308Ter
XM_011538779.1:c.839C>G	XP_011537081.1:p.Ser280Ter
XM_011538780.1:c.824C>G	XP_011537082.1:p.Ser275Ter
XM_011538781.1:c.272C>G	XP_011537083.1:p.Ser91Ter
XM_011538778.2:c.923C>G	XP_011537080.1:p.Ser308Ter
XM_011538780.2:c.824C>G	XP_011537082.1:p.Ser275Ter
XR_001748875.2:n.944C>G
NM_015665.6:c.923C>G MANE Select	NP_056480.1:p.Ser308Ter
NM_001173466.2:c.824C>G	NP_001166937.1:p.Ser275Ter