Canonical Allele Identifier: CA375197872
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576441A>G (hg19) chr9:g.129814162A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814162A>G , CM000671.2:g.129814162A>G GRCh38
NC_000009.11:g.132576441A>G , CM000671.1:g.132576441A>G GRCh37
NC_000009.10:g.131616262A>G NCBI36
NG_008049.1:g.15001T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.809T>C MANE Select ENSP00000345719.4:p.Leu270Pro
ENST00000651202.1:c.*77T>C ENSP00000498222.1:n.*77T>C
ENST00000351698.4:c.809T>C ENSP00000345719.4:p.Leu270Pro
ENST00000474192.1:n.393T>C
NM_000113.2:c.809T>C NP_000104.1:p.Leu270Pro
XR_929731.1:n.1136T>C
XR_929731.3:n.1004T>C
NM_000113.3:c.809T>C MANE Select NP_000104.1:p.Leu270Pro
Search 100 bp 5'
Search 100 bp 3'