Canonical Allele Identifier: CA375197438
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576299T>G (hg19) chr9:g.129814020T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.951A>C MANE Select ENSP00000345719.4:p.Lys317Asn
ENST00000651202.1:c.*219A>C ENSP00000498222.1:n.*219A>C
ENST00000351698.4:c.951A>C ENSP00000345719.4:p.Lys317Asn
ENST00000474192.1:n.535A>C
NM_000113.2:c.951A>C NP_000104.1:p.Lys317Asn
XR_929731.3:n.1146A>C
NM_000113.3:c.951A>C MANE Select NP_000104.1:p.Lys317Asn
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