Canonical Allele Identifier: CA467493951
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814218-G-T
MyVariant Identifiers: chr9:g.132576497G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814218G>T , CM000671.2:g.129814218G>T GRCh38
NC_000009.11:g.132576497G>T , CM000671.1:g.132576497G>T GRCh37
NC_000009.10:g.131616318G>T NCBI36
NG_008049.1:g.14945C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.753C>A MANE Select ENSP00000345719.4:p.Gly251=
ENST00000651202.1:c.*21C>A ENSP00000498222.1:n.*21C>A
ENST00000351698.4:c.753C>A ENSP00000345719.4:p.Gly251=
ENST00000474192.1:n.337C>A
NM_000113.2:c.753C>A NP_000104.1:p.Gly251=
XR_929731.1:n.1080C>A
XR_929731.3:n.948C>A
NM_000113.3:c.753C>A MANE Select NP_000104.1:p.Gly251=
Search 100 bp 5'
Search 100 bp 3'