Canonical Allele Identifier: CA5278524
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2445982
ClinVar RCV Id: RCV003155900
dbSNP Id: rs753220814
ExAC: 9:132576406 G / A
gnomAD v2: 9-132576406-G-A
gnomAD v4: 9-129814127-G-A
MyVariant Identifiers: chr9:g.132576406G>A (hg19) chr9:g.129814127G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814127G>A , CM000671.2:g.129814127G>A GRCh38
NC_000009.11:g.132576406G>A , CM000671.1:g.132576406G>A GRCh37
NC_000009.10:g.131616227G>A NCBI36
NG_008049.1:g.15036C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.844C>T MANE Select ENSP00000345719.4:p.Arg282Ter
ENST00000651202.1:c.*112C>T ENSP00000498222.1:n.*112C>T
ENST00000351698.4:c.844C>T ENSP00000345719.4:p.Arg282Ter
ENST00000474192.1:n.428C>T
NM_000113.2:c.844C>T NP_000104.1:p.Arg282Ter
XR_929731.1:n.1171C>T
XR_929731.3:n.1039C>T
NM_000113.3:c.844C>T MANE Select NP_000104.1:p.Arg282Ter
Search 100 bp 5'
Search 100 bp 3'