Canonical Allele Identifier: CA5278539
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1981617
ClinVar RCV Id: RCV002751569
dbSNP Id: rs200937403
ExAC: 9:132576504 G / A
gnomAD v2: 9-132576504-G-A
gnomAD v3: 9-129814225-G-A
gnomAD v4: 9-129814225-G-A
MyVariant Identifiers: chr9:g.132576504G>A (hg19) chr9:g.129814225G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814225G>A , CM000671.2:g.129814225G>A GRCh38
NC_000009.11:g.132576504G>A , CM000671.1:g.132576504G>A GRCh37
NC_000009.10:g.131616325G>A NCBI36
NG_008049.1:g.14938C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-3C>T MANE Select ENSP00000345719.4:n.749-3C>T
ENST00000651202.1:c.*17-3C>T ENSP00000498222.1:n.*17-3C>T
ENST00000351698.4:c.749-3C>T ENSP00000345719.4:n.749-3C>T
ENST00000474192.1:n.333-3C>T
NM_000113.2:c.749-3C>T NP_000104.1:n.749-3C>T
XR_929731.1:n.1076-3C>T
XR_929731.3:n.944-3C>T
NM_000113.3:c.749-3C>T MANE Select NP_000104.1:n.749-3C>T
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