Canonical Allele Identifier: CA385041672

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702954A>C (hg19) ; chr12:g.53309170A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309170A>C , CM000674.2:g.53309170A>C	GRCh38
NC_000012.11:g.53702954A>C , CM000674.1:g.53702954A>C	GRCh37
NC_000012.10:g.51989221A>C	NCBI36
NG_016775.1:g.17459T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.922T>G MANE Select	ENSP00000209873.4:p.Ser308Ala
ENST00000546393.7:n.1767T>G
ENST00000546562.6:n.1986T>G
ENST00000547238.6:n.1558T>G
ENST00000547520.6:n.916T>G
ENST00000547757.2:c.-30T>G	ENSP00000448020.2:n.-30T>G
ENST00000548880.2:n.1372T>G
ENST00000548931.6:c.442T>G	ENSP00000457518.1:p.Ser148Ala
ENST00000549450.6:n.856T>G
ENST00000552161.6:n.1878T>G
ENST00000672797.1:n.1375T>G
ENST00000672900.1:n.1720T>G
ENST00000209873.8:c.922T>G	ENSP00000209873.4:p.Ser308Ala
ENST00000394384.7:c.823T>G	ENSP00000377908.3:p.Ser275Ala
ENST00000546393.6:n.819T>G
ENST00000546572.1:n.374T>G
ENST00000547520.5:n.626T>G
ENST00000547757.1:c.823T>G	ENSP00000448020.1:p.Ser275Ala
ENST00000547761.6:n.814T>G
ENST00000548931.5:c.442T>G	ENSP00000457518.1:p.Ser148Ala
ENST00000550033.5:n.177T>G
ENST00000550286.5:c.550T>G	ENSP00000446885.1:p.Ser184Ala
ENST00000552876.5:n.1265T>G
NM_001173466.1:c.823T>G	NP_001166937.1:p.Ser275Ala
NM_015665.5:c.922T>G	NP_056480.1:p.Ser308Ala
XM_006719617.2:c.937T>G	XP_006719680.1:p.Ser313Ala
XM_006719619.2:c.937T>G	XP_006719682.1:p.Ser313Ala
XM_011538777.1:c.937T>G	XP_011537079.1:p.Ser313Ala
XM_011538778.1:c.922T>G	XP_011537080.1:p.Ser308Ala
XM_011538779.1:c.838T>G	XP_011537081.1:p.Ser280Ala
XM_011538780.1:c.823T>G	XP_011537082.1:p.Ser275Ala
XM_011538781.1:c.271T>G	XP_011537083.1:p.Ser91Ala
XM_011538778.2:c.922T>G	XP_011537080.1:p.Ser308Ala
XM_011538780.2:c.823T>G	XP_011537082.1:p.Ser275Ala
XR_001748875.2:n.943T>G
NM_015665.6:c.922T>G MANE Select	NP_056480.1:p.Ser308Ala
NM_001173466.2:c.823T>G	NP_001166937.1:p.Ser275Ala