Canonical Allele Identifier: CA467365839
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132584956T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129822677T>A , CM000671.2:g.129822677T>A GRCh38
NC_000009.11:g.132584956T>A , CM000671.1:g.132584956T>A GRCh37
NC_000009.10:g.131624777T>A NCBI36
NG_008049.1:g.6486A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.348A>T MANE Select ENSP00000345719.4:p.Ala116=
ENST00000651202.1:c.444A>T ENSP00000498222.1:p.Ala148=
ENST00000351698.4:c.348A>T ENSP00000345719.4:p.Ala116=
ENST00000473084.1:n.367A>T
ENST00000473604.2:n.458A>T
NM_000113.2:c.348A>T NP_000104.1:p.Ala116=
XR_929731.1:n.508A>T
XR_929731.3:n.376A>T
NM_000113.3:c.348A>T MANE Select NP_000104.1:p.Ala116=