Canonical Allele Identifier: CA5278642
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs771740989
ExAC: 9:132581178 G / C
gnomAD v2: 9-132581178-G-C
gnomAD v4: 9-129818899-G-C
MyVariant Identifiers: chr9:g.132581178G>C (hg19) chr9:g.129818899G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818899G>C , CM000671.2:g.129818899G>C GRCh38
NC_000009.11:g.132581178G>C , CM000671.1:g.132581178G>C GRCh37
NC_000009.10:g.131620999G>C NCBI36
NG_008049.1:g.10264C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.466C>G MANE Select ENSP00000345719.4:p.Arg156Gly
ENST00000651202.1:c.562C>G ENSP00000498222.1:p.Arg188Gly
ENST00000351698.4:c.466C>G ENSP00000345719.4:p.Arg156Gly
ENST00000473604.2:n.576C>G
NM_000113.2:c.466C>G NP_000104.1:p.Arg156Gly
XR_929731.1:n.626C>G
XR_929731.3:n.494C>G
NM_000113.3:c.466C>G MANE Select NP_000104.1:p.Arg156Gly
Search 100 bp 5'
Search 100 bp 3'