Canonical Allele Identifier: CA375199378
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581183C>G (hg19) chr9:g.129818904C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818904C>G , CM000671.2:g.129818904C>G GRCh38
NC_000009.11:g.132581183C>G , CM000671.1:g.132581183C>G GRCh37
NC_000009.10:g.131621004C>G NCBI36
NG_008049.1:g.10259G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.461G>C MANE Select ENSP00000345719.4:p.Trp154Ser
ENST00000651202.1:c.557G>C ENSP00000498222.1:p.Trp186Ser
ENST00000351698.4:c.461G>C ENSP00000345719.4:p.Trp154Ser
ENST00000473604.2:n.571G>C
NM_000113.2:c.461G>C NP_000104.1:p.Trp154Ser
XR_929731.1:n.621G>C
XR_929731.3:n.489G>C
NM_000113.3:c.461G>C MANE Select NP_000104.1:p.Trp154Ser
Search 100 bp 5'
Search 100 bp 3'