Canonical Allele Identifier: CA5278636
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs142909469
ExAC: 9:132581156 G / C
gnomAD v2: 9-132581156-G-C
gnomAD v4: 9-129818877-G-C
MyVariant Identifiers: chr9:g.132581156G>C (hg19) chr9:g.129818877G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818877G>C , CM000671.2:g.129818877G>C GRCh38
NC_000009.11:g.132581156G>C , CM000671.1:g.132581156G>C GRCh37
NC_000009.10:g.131620977G>C NCBI36
NG_008049.1:g.10286C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.488C>G MANE Select ENSP00000345719.4:p.Ala163Gly
ENST00000651202.1:c.584C>G ENSP00000498222.1:p.Ala195Gly
ENST00000351698.4:c.488C>G ENSP00000345719.4:p.Ala163Gly
ENST00000473604.2:n.598C>G
NM_000113.2:c.488C>G NP_000104.1:p.Ala163Gly
XR_929731.1:n.648C>G
XR_929731.3:n.516C>G
NM_000113.3:c.488C>G MANE Select NP_000104.1:p.Ala163Gly
Search 100 bp 5'
Search 100 bp 3'