Canonical Allele Identifier: CA5278502
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 913782
ClinVar RCV Id: RCV001167585 RCV001760117
dbSNP Id: rs1476648522
ExAC: 9:132576288 G / A
gnomAD v2: 9-132576288-G-A
gnomAD v3: 9-129814009-G-A
gnomAD v4: 9-129814009-G-A
MyVariant Identifiers: chr9:g.132576288G>A (hg19) chr9:g.132576288_132576289delinsAT (hg19) chr9:g.129814009G>A (hg38) chr9:g.129814009_129814010delinsAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814009G>A , CM000671.2:g.129814009G>A GRCh38
NC_000009.11:g.132576288G>A , CM000671.1:g.132576288G>A GRCh37
NC_000009.10:g.131616109G>A NCBI36
NG_008049.1:g.15154C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.962C>T MANE Select ENSP00000345719.4:p.Thr321Met
ENST00000651202.1:c.*230C>T ENSP00000498222.1:n.*230C>T
ENST00000351698.4:c.962C>T ENSP00000345719.4:p.Thr321Met
ENST00000474192.1:n.546C>T
NM_000113.2:c.962C>T NP_000104.1:p.Thr321Met
XR_929731.3:n.1157C>T
NM_000113.3:c.962C>T MANE Select NP_000104.1:p.Thr321Met
Search 100 bp 5'
Search 100 bp 3'