Canonical Allele Identifier: CA385041750

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702962G>A (hg19) ; chr12:g.53309178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309178G>A , CM000674.2:g.53309178G>A	GRCh38
NC_000012.11:g.53702962G>A , CM000674.1:g.53702962G>A	GRCh37
NC_000012.10:g.51989229G>A	NCBI36
NG_016775.1:g.17451C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.914C>T MANE Select	ENSP00000209873.4:p.Thr305Ile
ENST00000546393.7:n.1759C>T
ENST00000546562.6:n.1978C>T
ENST00000547238.6:n.1550C>T
ENST00000547520.6:n.908C>T
ENST00000547757.2:c.-38C>T	ENSP00000448020.2:n.-38C>T
ENST00000548880.2:n.1364C>T
ENST00000548931.6:c.434C>T	ENSP00000457518.1:p.Thr145Ile
ENST00000549450.6:n.848C>T
ENST00000552161.6:n.1870C>T
ENST00000672797.1:n.1367C>T
ENST00000672900.1:n.1712C>T
ENST00000209873.8:c.914C>T	ENSP00000209873.4:p.Thr305Ile
ENST00000394384.7:c.815C>T	ENSP00000377908.3:p.Thr272Ile
ENST00000546393.6:n.811C>T
ENST00000546572.1:n.366C>T
ENST00000547520.5:n.618C>T
ENST00000547757.1:c.815C>T	ENSP00000448020.1:p.Thr272Ile
ENST00000547761.6:n.806C>T
ENST00000548931.5:c.434C>T	ENSP00000457518.1:p.Thr145Ile
ENST00000550033.5:n.169C>T
ENST00000550286.5:c.542C>T	ENSP00000446885.1:p.Thr181Ile
ENST00000552876.5:n.1257C>T
NM_001173466.1:c.815C>T	NP_001166937.1:p.Thr272Ile
NM_015665.5:c.914C>T	NP_056480.1:p.Thr305Ile
XM_006719617.2:c.929C>T	XP_006719680.1:p.Thr310Ile
XM_006719619.2:c.929C>T	XP_006719682.1:p.Thr310Ile
XM_011538777.1:c.929C>T	XP_011537079.1:p.Thr310Ile
XM_011538778.1:c.914C>T	XP_011537080.1:p.Thr305Ile
XM_011538779.1:c.830C>T	XP_011537081.1:p.Thr277Ile
XM_011538780.1:c.815C>T	XP_011537082.1:p.Thr272Ile
XM_011538781.1:c.263C>T	XP_011537083.1:p.Thr88Ile
XM_011538778.2:c.914C>T	XP_011537080.1:p.Thr305Ile
XM_011538780.2:c.815C>T	XP_011537082.1:p.Thr272Ile
XR_001748875.2:n.935C>T
NM_015665.6:c.914C>T MANE Select	NP_056480.1:p.Thr305Ile
NM_001173466.2:c.815C>T	NP_001166937.1:p.Thr272Ile