Canonical Allele Identifier: CA375199045
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129818755-T-G
MyVariant Identifiers: chr9:g.132581034T>G (hg19) chr9:g.129818755T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818755T>G , CM000671.2:g.129818755T>G GRCh38
NC_000009.11:g.132581034T>G , CM000671.1:g.132581034T>G GRCh37
NC_000009.10:g.131620855T>G NCBI36
NG_008049.1:g.10408A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.610A>C MANE Select ENSP00000345719.4:p.Ile204Leu
ENST00000651202.1:c.706A>C ENSP00000498222.1:p.Ile236Leu
ENST00000351698.4:c.610A>C ENSP00000345719.4:p.Ile204Leu
ENST00000473604.2:n.720A>C
ENST00000474192.1:n.27A>C
NM_000113.2:c.610A>C NP_000104.1:p.Ile204Leu
XR_929731.1:n.770A>C
XR_929731.3:n.638A>C
NM_000113.3:c.610A>C MANE Select NP_000104.1:p.Ile204Leu
Search 100 bp 5'
Search 100 bp 3'