Canonical Allele Identifier: CA385041636

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702950G>C (hg19) ; chr12:g.53309166G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309166G>C , CM000674.2:g.53309166G>C	GRCh38
NC_000012.11:g.53702950G>C , CM000674.1:g.53702950G>C	GRCh37
NC_000012.10:g.51989217G>C	NCBI36
NG_016775.1:g.17463C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.926C>G MANE Select	ENSP00000209873.4:p.Ala309Gly
ENST00000546393.7:n.1771C>G
ENST00000546562.6:n.1990C>G
ENST00000547238.6:n.1562C>G
ENST00000547520.6:n.920C>G
ENST00000547757.2:c.-26C>G	ENSP00000448020.2:n.-26C>G
ENST00000548880.2:n.1376C>G
ENST00000548931.6:c.446C>G	ENSP00000457518.1:p.Ala149Gly
ENST00000549450.6:n.860C>G
ENST00000552161.6:n.1882C>G
ENST00000672797.1:n.1379C>G
ENST00000672900.1:n.1724C>G
ENST00000209873.8:c.926C>G	ENSP00000209873.4:p.Ala309Gly
ENST00000394384.7:c.827C>G	ENSP00000377908.3:p.Ala276Gly
ENST00000546393.6:n.823C>G
ENST00000546572.1:n.378C>G
ENST00000547520.5:n.630C>G
ENST00000547757.1:c.827C>G	ENSP00000448020.1:p.Ala276Gly
ENST00000547761.6:n.818C>G
ENST00000548931.5:c.446C>G	ENSP00000457518.1:p.Ala149Gly
ENST00000550033.5:n.181C>G
ENST00000550286.5:c.554C>G	ENSP00000446885.1:p.Ala185Gly
ENST00000552876.5:n.1269C>G
NM_001173466.1:c.827C>G	NP_001166937.1:p.Ala276Gly
NM_015665.5:c.926C>G	NP_056480.1:p.Ala309Gly
XM_006719617.2:c.941C>G	XP_006719680.1:p.Ala314Gly
XM_006719619.2:c.941C>G	XP_006719682.1:p.Ala314Gly
XM_011538777.1:c.941C>G	XP_011537079.1:p.Ala314Gly
XM_011538778.1:c.926C>G	XP_011537080.1:p.Ala309Gly
XM_011538779.1:c.842C>G	XP_011537081.1:p.Ala281Gly
XM_011538780.1:c.827C>G	XP_011537082.1:p.Ala276Gly
XM_011538781.1:c.275C>G	XP_011537083.1:p.Ala92Gly
XM_011538778.2:c.926C>G	XP_011537080.1:p.Ala309Gly
XM_011538780.2:c.827C>G	XP_011537082.1:p.Ala276Gly
XR_001748875.2:n.947C>G
NM_015665.6:c.926C>G MANE Select	NP_056480.1:p.Ala309Gly
NM_001173466.2:c.827C>G	NP_001166937.1:p.Ala276Gly