Canonical Allele Identifier: CA467493697
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576323T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814044T>C , CM000671.2:g.129814044T>C GRCh38
NC_000009.11:g.132576323T>C , CM000671.1:g.132576323T>C GRCh37
NC_000009.10:g.131616144T>C NCBI36
NG_008049.1:g.15119A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.927A>G MANE Select ENSP00000345719.4:p.Lys309=
ENST00000651202.1:c.*195A>G ENSP00000498222.1:n.*195A>G
ENST00000351698.4:c.927A>G ENSP00000345719.4:p.Lys309=
ENST00000474192.1:n.511A>G
NM_000113.2:c.927A>G NP_000104.1:p.Lys309=
XR_929731.1:n.1254A>G
XR_929731.3:n.1122A>G
NM_000113.3:c.927A>G MANE Select NP_000104.1:p.Lys309=
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