Canonical Allele Identifier: CA385041720
Gene: AAAS HGNC NCBI

Linked Data

dbSNP Id: rs1216348421

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000209873.9:c.917C>T MANE Select ENSP00000209873.4:p.Thr306Ile
ENST00000546393.7:n.1762C>T
ENST00000546562.6:n.1981C>T
ENST00000547238.6:n.1553C>T
ENST00000547520.6:n.911C>T
ENST00000547757.2:c.-35C>T ENSP00000448020.2:n.-35C>T
ENST00000548880.2:n.1367C>T
ENST00000548931.6:c.437C>T ENSP00000457518.1:p.Thr146Ile
ENST00000549450.6:n.851C>T
ENST00000552161.6:n.1873C>T
ENST00000672797.1:n.1370C>T
ENST00000672900.1:n.1715C>T
ENST00000209873.8:c.917C>T ENSP00000209873.4:p.Thr306Ile
ENST00000394384.7:c.818C>T ENSP00000377908.3:p.Thr273Ile
ENST00000546393.6:n.814C>T
ENST00000546572.1:n.369C>T
ENST00000547520.5:n.621C>T
ENST00000547757.1:c.818C>T ENSP00000448020.1:p.Thr273Ile
ENST00000547761.6:n.809C>T
ENST00000548931.5:c.437C>T ENSP00000457518.1:p.Thr146Ile
ENST00000550033.5:n.172C>T
ENST00000550286.5:c.545C>T ENSP00000446885.1:p.Thr182Ile
ENST00000552876.5:n.1260C>T
NM_001173466.1:c.818C>T NP_001166937.1:p.Thr273Ile
NM_015665.5:c.917C>T NP_056480.1:p.Thr306Ile
XM_006719617.2:c.932C>T XP_006719680.1:p.Thr311Ile
XM_006719619.2:c.932C>T XP_006719682.1:p.Thr311Ile
XM_011538777.1:c.932C>T XP_011537079.1:p.Thr311Ile
XM_011538778.1:c.917C>T XP_011537080.1:p.Thr306Ile
XM_011538779.1:c.833C>T XP_011537081.1:p.Thr278Ile
XM_011538780.1:c.818C>T XP_011537082.1:p.Thr273Ile
XM_011538781.1:c.266C>T XP_011537083.1:p.Thr89Ile
XM_011538778.2:c.917C>T XP_011537080.1:p.Thr306Ile
XM_011538780.2:c.818C>T XP_011537082.1:p.Thr273Ile
XR_001748875.2:n.938C>T
NM_015665.6:c.917C>T MANE Select NP_056480.1:p.Thr306Ile
NM_001173466.2:c.818C>T NP_001166937.1:p.Thr273Ile