Canonical Allele Identifier: CA375198016
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2030973252
gnomAD v4: 9-129814195-T-C
MyVariant Identifiers: chr9:g.132576474T>C (hg19) chr9:g.129814195T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814195T>C , CM000671.2:g.129814195T>C GRCh38
NC_000009.11:g.132576474T>C , CM000671.1:g.132576474T>C GRCh37
NC_000009.10:g.131616295T>C NCBI36
NG_008049.1:g.14968A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.776A>G MANE Select ENSP00000345719.4:p.Asp259Gly
ENST00000651202.1:c.*44A>G ENSP00000498222.1:n.*44A>G
ENST00000351698.4:c.776A>G ENSP00000345719.4:p.Asp259Gly
ENST00000474192.1:n.360A>G
NM_000113.2:c.776A>G NP_000104.1:p.Asp259Gly
XR_929731.1:n.1103A>G
XR_929731.3:n.971A>G
NM_000113.3:c.776A>G MANE Select NP_000104.1:p.Asp259Gly
Search 100 bp 5'
Search 100 bp 3'