Canonical Allele Identifier: CA467493702
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576332A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814053A>G , CM000671.2:g.129814053A>G GRCh38
NC_000009.11:g.132576332A>G , CM000671.1:g.132576332A>G GRCh37
NC_000009.10:g.131616153A>G NCBI36
NG_008049.1:g.15110T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.918T>C MANE Select ENSP00000345719.4:p.Phe306=
ENST00000651202.1:c.*186T>C ENSP00000498222.1:n.*186T>C
ENST00000351698.4:c.918T>C ENSP00000345719.4:p.Phe306=
ENST00000474192.1:n.502T>C
NM_000113.2:c.918T>C NP_000104.1:p.Phe306=
XR_929731.1:n.1245T>C
XR_929731.3:n.1113T>C
NM_000113.3:c.918T>C MANE Select NP_000104.1:p.Phe306=