Canonical Allele Identifier: CA375199350
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581170G>C (hg19) chr9:g.129818891G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818891G>C , CM000671.2:g.129818891G>C GRCh38
NC_000009.11:g.132581170G>C , CM000671.1:g.132581170G>C GRCh37
NC_000009.10:g.131620991G>C NCBI36
NG_008049.1:g.10272C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.474C>G MANE Select ENSP00000345719.4:p.Asn158Lys
ENST00000651202.1:c.570C>G ENSP00000498222.1:p.Asn190Lys
ENST00000351698.4:c.474C>G ENSP00000345719.4:p.Asn158Lys
ENST00000473604.2:n.584C>G
NM_000113.2:c.474C>G NP_000104.1:p.Asn158Lys
XR_929731.1:n.634C>G
XR_929731.3:n.502C>G
NM_000113.3:c.474C>G MANE Select NP_000104.1:p.Asn158Lys
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