Canonical Allele Identifier: CA375199039
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581032T>C (hg19) chr9:g.129818753T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818753T>C , CM000671.2:g.129818753T>C GRCh38
NC_000009.11:g.132581032T>C , CM000671.1:g.132581032T>C GRCh37
NC_000009.10:g.131620853T>C NCBI36
NG_008049.1:g.10410A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.612A>G MANE Select ENSP00000345719.4:p.Ile204Met
ENST00000651202.1:c.708A>G ENSP00000498222.1:p.Ile236Met
ENST00000351698.4:c.612A>G ENSP00000345719.4:p.Ile204Met
ENST00000473604.2:n.722A>G
ENST00000474192.1:n.29A>G
NM_000113.2:c.612A>G NP_000104.1:p.Ile204Met
XR_929731.1:n.772A>G
XR_929731.3:n.640A>G
NM_000113.3:c.612A>G MANE Select NP_000104.1:p.Ile204Met
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