Canonical Allele Identifier: CA375197973
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2845707
ClinVar RCV Id: RCV003747378
dbSNP Id: rs1400969632
gnomAD v2: 9-132576463-T-G
gnomAD v4: 9-129814184-T-G
MyVariant Identifiers: chr9:g.132576463T>G (hg19) chr9:g.129814184T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814184T>G , CM000671.2:g.129814184T>G GRCh38
NC_000009.11:g.132576463T>G , CM000671.1:g.132576463T>G GRCh37
NC_000009.10:g.131616284T>G NCBI36
NG_008049.1:g.14979A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.787A>C MANE Select ENSP00000345719.4:p.Ile263Leu
ENST00000651202.1:c.*55A>C ENSP00000498222.1:n.*55A>C
ENST00000351698.4:c.787A>C ENSP00000345719.4:p.Ile263Leu
ENST00000474192.1:n.371A>C
NM_000113.2:c.787A>C NP_000104.1:p.Ile263Leu
XR_929731.1:n.1114A>C
XR_929731.3:n.982A>C
NM_000113.3:c.787A>C MANE Select NP_000104.1:p.Ile263Leu
Search 100 bp 5'
Search 100 bp 3'