Canonical Allele Identifier: CA375198101
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576492C>G (hg19) chr9:g.129814213C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814213C>G , CM000671.2:g.129814213C>G GRCh38
NC_000009.11:g.132576492C>G , CM000671.1:g.132576492C>G GRCh37
NC_000009.10:g.131616313C>G NCBI36
NG_008049.1:g.14950G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.758G>C MANE Select ENSP00000345719.4:p.Trp253Ser
ENST00000651202.1:c.*26G>C ENSP00000498222.1:n.*26G>C
ENST00000351698.4:c.758G>C ENSP00000345719.4:p.Trp253Ser
ENST00000474192.1:n.342G>C
NM_000113.2:c.758G>C NP_000104.1:p.Trp253Ser
XR_929731.1:n.1085G>C
XR_929731.3:n.953G>C
NM_000113.3:c.758G>C MANE Select NP_000104.1:p.Trp253Ser
Search 100 bp 5'
Search 100 bp 3'