Canonical Allele Identifier: CA385041730

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702959G>C (hg19) ; chr12:g.53309175G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309175G>C , CM000674.2:g.53309175G>C	GRCh38
NC_000012.11:g.53702959G>C , CM000674.1:g.53702959G>C	GRCh37
NC_000012.10:g.51989226G>C	NCBI36
NG_016775.1:g.17454C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.917C>G MANE Select	ENSP00000209873.4:p.Thr306Ser
ENST00000546393.7:n.1762C>G
ENST00000546562.6:n.1981C>G
ENST00000547238.6:n.1553C>G
ENST00000547520.6:n.911C>G
ENST00000547757.2:c.-35C>G	ENSP00000448020.2:n.-35C>G
ENST00000548880.2:n.1367C>G
ENST00000548931.6:c.437C>G	ENSP00000457518.1:p.Thr146Ser
ENST00000549450.6:n.851C>G
ENST00000552161.6:n.1873C>G
ENST00000672797.1:n.1370C>G
ENST00000672900.1:n.1715C>G
ENST00000209873.8:c.917C>G	ENSP00000209873.4:p.Thr306Ser
ENST00000394384.7:c.818C>G	ENSP00000377908.3:p.Thr273Ser
ENST00000546393.6:n.814C>G
ENST00000546572.1:n.369C>G
ENST00000547520.5:n.621C>G
ENST00000547757.1:c.818C>G	ENSP00000448020.1:p.Thr273Ser
ENST00000547761.6:n.809C>G
ENST00000548931.5:c.437C>G	ENSP00000457518.1:p.Thr146Ser
ENST00000550033.5:n.172C>G
ENST00000550286.5:c.545C>G	ENSP00000446885.1:p.Thr182Ser
ENST00000552876.5:n.1260C>G
NM_001173466.1:c.818C>G	NP_001166937.1:p.Thr273Ser
NM_015665.5:c.917C>G	NP_056480.1:p.Thr306Ser
XM_006719617.2:c.932C>G	XP_006719680.1:p.Thr311Ser
XM_006719619.2:c.932C>G	XP_006719682.1:p.Thr311Ser
XM_011538777.1:c.932C>G	XP_011537079.1:p.Thr311Ser
XM_011538778.1:c.917C>G	XP_011537080.1:p.Thr306Ser
XM_011538779.1:c.833C>G	XP_011537081.1:p.Thr278Ser
XM_011538780.1:c.818C>G	XP_011537082.1:p.Thr273Ser
XM_011538781.1:c.266C>G	XP_011537083.1:p.Thr89Ser
XM_011538778.2:c.917C>G	XP_011537080.1:p.Thr306Ser
XM_011538780.2:c.818C>G	XP_011537082.1:p.Thr273Ser
XR_001748875.2:n.938C>G
NM_015665.6:c.917C>G MANE Select	NP_056480.1:p.Thr306Ser
NM_001173466.2:c.818C>G	NP_001166937.1:p.Thr273Ser