Canonical Allele Identifier: CA467494113
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581032T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818753T>G , CM000671.2:g.129818753T>G GRCh38
NC_000009.11:g.132581032T>G , CM000671.1:g.132581032T>G GRCh37
NC_000009.10:g.131620853T>G NCBI36
NG_008049.1:g.10410A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.612A>C MANE Select ENSP00000345719.4:p.Ile204=
ENST00000651202.1:c.708A>C ENSP00000498222.1:p.Ile236=
ENST00000351698.4:c.612A>C ENSP00000345719.4:p.Ile204=
ENST00000473604.2:n.722A>C
ENST00000474192.1:n.29A>C
NM_000113.2:c.612A>C NP_000104.1:p.Ile204=
XR_929731.1:n.772A>C
XR_929731.3:n.640A>C
NM_000113.3:c.612A>C MANE Select NP_000104.1:p.Ile204=
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