Canonical Allele Identifier: CA467493685
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576299T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814020T>C , CM000671.2:g.129814020T>C GRCh38
NC_000009.11:g.132576299T>C , CM000671.1:g.132576299T>C GRCh37
NC_000009.10:g.131616120T>C NCBI36
NG_008049.1:g.15143A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.951A>G MANE Select ENSP00000345719.4:p.Lys317=
ENST00000651202.1:c.*219A>G ENSP00000498222.1:n.*219A>G
ENST00000351698.4:c.951A>G ENSP00000345719.4:p.Lys317=
ENST00000474192.1:n.535A>G
NM_000113.2:c.951A>G NP_000104.1:p.Lys317=
XR_929731.3:n.1146A>G
NM_000113.3:c.951A>G MANE Select NP_000104.1:p.Lys317=
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