Canonical Allele Identifier: CA375197674
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1417712501
gnomAD v4: 9-129814076-T-C
MyVariant Identifiers: chr9:g.132576355T>C (hg19) chr9:g.129814076T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814076T>C , CM000671.2:g.129814076T>C GRCh38
NC_000009.11:g.132576355T>C , CM000671.1:g.132576355T>C GRCh37
NC_000009.10:g.131616176T>C NCBI36
NG_008049.1:g.15087A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.895A>G MANE Select ENSP00000345719.4:p.Arg299Gly
ENST00000651202.1:c.*163A>G ENSP00000498222.1:n.*163A>G
ENST00000351698.4:c.895A>G ENSP00000345719.4:p.Arg299Gly
ENST00000474192.1:n.479A>G
NM_000113.2:c.895A>G NP_000104.1:p.Arg299Gly
XR_929731.1:n.1222A>G
XR_929731.3:n.1090A>G
NM_000113.3:c.895A>G MANE Select NP_000104.1:p.Arg299Gly
Search 100 bp 5'
Search 100 bp 3'