Canonical Allele Identifier: CA467493925
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576482G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814203G>A , CM000671.2:g.129814203G>A GRCh38
NC_000009.11:g.132576482G>A , CM000671.1:g.132576482G>A GRCh37
NC_000009.10:g.131616303G>A NCBI36
NG_008049.1:g.14960C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.768C>T MANE Select ENSP00000345719.4:p.Ser256=
ENST00000651202.1:c.*36C>T ENSP00000498222.1:n.*36C>T
ENST00000351698.4:c.768C>T ENSP00000345719.4:p.Ser256=
ENST00000474192.1:n.352C>T
NM_000113.2:c.768C>T NP_000104.1:p.Ser256=
XR_929731.1:n.1095C>T
XR_929731.3:n.963C>T
NM_000113.3:c.768C>T MANE Select NP_000104.1:p.Ser256=