Canonical Allele Identifier: CA467494049
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581173G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818894G>T , CM000671.2:g.129818894G>T GRCh38
NC_000009.11:g.132581173G>T , CM000671.1:g.132581173G>T GRCh37
NC_000009.10:g.131620994G>T NCBI36
NG_008049.1:g.10269C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.471C>A MANE Select ENSP00000345719.4:p.Gly157=
ENST00000651202.1:c.567C>A ENSP00000498222.1:p.Gly189=
ENST00000351698.4:c.471C>A ENSP00000345719.4:p.Gly157=
ENST00000473604.2:n.581C>A
NM_000113.2:c.471C>A NP_000104.1:p.Gly157=
XR_929731.1:n.631C>A
XR_929731.3:n.499C>A
NM_000113.3:c.471C>A MANE Select NP_000104.1:p.Gly157=