Canonical Allele Identifier: CA375197573
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576329G>C (hg19) chr9:g.129814050G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814050G>C , CM000671.2:g.129814050G>C GRCh38
NC_000009.11:g.132576329G>C , CM000671.1:g.132576329G>C GRCh37
NC_000009.10:g.131616150G>C NCBI36
NG_008049.1:g.15113C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.921C>G MANE Select ENSP00000345719.4:p.Phe307Leu
ENST00000651202.1:c.*189C>G ENSP00000498222.1:n.*189C>G
ENST00000351698.4:c.921C>G ENSP00000345719.4:p.Phe307Leu
ENST00000474192.1:n.505C>G
NM_000113.2:c.921C>G NP_000104.1:p.Phe307Leu
XR_929731.1:n.1248C>G
XR_929731.3:n.1116C>G
NM_000113.3:c.921C>G MANE Select NP_000104.1:p.Phe307Leu
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