Canonical Allele Identifier: CA385041130

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308979-G-A
• MyVariant Identifiers: chr12:g.53702763G>A (hg19) ; chr12:g.53308979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308979G>A , CM000674.2:g.53308979G>A	GRCh38
NC_000012.11:g.53702763G>A , CM000674.1:g.53702763G>A	GRCh37
NC_000012.10:g.51989030G>A	NCBI36
NG_016775.1:g.17650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.977C>T MANE Select	ENSP00000209873.4:p.Thr326Ile
ENST00000546393.7:n.1822C>T
ENST00000546562.6:n.2041C>T
ENST00000547238.6:n.1613C>T
ENST00000547520.6:n.971C>T
ENST00000547757.2:c.26C>T	ENSP00000448020.2:p.Thr9Ile
ENST00000548880.2:n.1427C>T
ENST00000548931.6:c.497C>T	ENSP00000457518.1:p.Thr166Ile
ENST00000549450.6:n.911C>T
ENST00000552161.6:n.1933C>T
ENST00000672797.1:n.1430C>T
ENST00000672900.1:n.1775C>T
ENST00000209873.8:c.977C>T	ENSP00000209873.4:p.Thr326Ile
ENST00000394384.7:c.878C>T	ENSP00000377908.3:p.Thr293Ile
ENST00000546572.1:n.565C>T
ENST00000547520.5:n.681C>T
ENST00000548931.5:c.497C>T	ENSP00000457518.1:p.Thr166Ile
ENST00000550033.5:n.232C>T
ENST00000550286.5:c.605C>T	ENSP00000446885.1:p.Thr202Ile
ENST00000552876.5:n.1320C>T
NM_001173466.1:c.878C>T	NP_001166937.1:p.Thr293Ile
NM_015665.5:c.977C>T	NP_056480.1:p.Thr326Ile
XM_006719617.2:c.992C>T	XP_006719680.1:p.Thr331Ile
XM_006719619.2:c.992C>T	XP_006719682.1:p.Thr331Ile
XM_011538777.1:c.992C>T	XP_011537079.1:p.Thr331Ile
XM_011538778.1:c.977C>T	XP_011537080.1:p.Thr326Ile
XM_011538779.1:c.893C>T	XP_011537081.1:p.Thr298Ile
XM_011538780.1:c.878C>T	XP_011537082.1:p.Thr293Ile
XM_011538781.1:c.326C>T	XP_011537083.1:p.Thr109Ile
XM_011538778.2:c.977C>T	XP_011537080.1:p.Thr326Ile
XM_011538780.2:c.878C>T	XP_011537082.1:p.Thr293Ile
XR_001748875.2:n.998C>T
NM_015665.6:c.977C>T MANE Select	NP_056480.1:p.Thr326Ile
NM_001173466.2:c.878C>T	NP_001166937.1:p.Thr293Ile