Canonical Allele Identifier: CA375198104
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1352000161
gnomAD v2: 9-132576492-C-T
MyVariant Identifiers: chr9:g.132576492C>T (hg19) chr9:g.129814213C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814213C>T , CM000671.2:g.129814213C>T GRCh38
NC_000009.11:g.132576492C>T , CM000671.1:g.132576492C>T GRCh37
NC_000009.10:g.131616313C>T NCBI36
NG_008049.1:g.14950G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.758G>A MANE Select ENSP00000345719.4:p.Trp253Ter
ENST00000651202.1:c.*26G>A ENSP00000498222.1:n.*26G>A
ENST00000351698.4:c.758G>A ENSP00000345719.4:p.Trp253Ter
ENST00000474192.1:n.342G>A
NM_000113.2:c.758G>A NP_000104.1:p.Trp253Ter
XR_929731.1:n.1085G>A
XR_929731.3:n.953G>A
NM_000113.3:c.758G>A MANE Select NP_000104.1:p.Trp253Ter
Search 100 bp 5'
Search 100 bp 3'