Canonical Allele Identifier: CA375197954
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576459T>G (hg19) chr9:g.129814180T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814180T>G , CM000671.2:g.129814180T>G GRCh38
NC_000009.11:g.132576459T>G , CM000671.1:g.132576459T>G GRCh37
NC_000009.10:g.131616280T>G NCBI36
NG_008049.1:g.14983A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.791A>C MANE Select ENSP00000345719.4:p.Asp264Ala
ENST00000651202.1:c.*59A>C ENSP00000498222.1:n.*59A>C
ENST00000351698.4:c.791A>C ENSP00000345719.4:p.Asp264Ala
ENST00000474192.1:n.375A>C
NM_000113.2:c.791A>C NP_000104.1:p.Asp264Ala
XR_929731.1:n.1118A>C
XR_929731.3:n.986A>C
NM_000113.3:c.791A>C MANE Select NP_000104.1:p.Asp264Ala
Search 100 bp 5'
Search 100 bp 3'