Canonical Allele Identifier: CA467494026
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581167C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818888C>T , CM000671.2:g.129818888C>T GRCh38
NC_000009.11:g.132581167C>T , CM000671.1:g.132581167C>T GRCh37
NC_000009.10:g.131620988C>T NCBI36
NG_008049.1:g.10275G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.477G>A MANE Select ENSP00000345719.4:p.Val159=
ENST00000651202.1:c.573G>A ENSP00000498222.1:p.Val191=
ENST00000351698.4:c.477G>A ENSP00000345719.4:p.Val159=
ENST00000473604.2:n.587G>A
NM_000113.2:c.477G>A NP_000104.1:p.Val159=
XR_929731.1:n.637G>A
XR_929731.3:n.505G>A
NM_000113.3:c.477G>A MANE Select NP_000104.1:p.Val159=