Canonical Allele Identifier: CA200533593
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs55800846
gnomAD v3: 9-129813755-C-T
gnomAD v4: 9-129813755-C-T
MyVariant Identifiers: chr9:g.132576034C>T (hg19) chr9:g.129813755C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813755C>T , CM000671.2:g.129813755C>T GRCh38
NC_000009.11:g.132576034C>T , CM000671.1:g.132576034C>T GRCh37
NC_000009.10:g.131615855C>T NCBI36
NG_008049.1:g.15408G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*217G>A MANE Select ENSP00000345719.4:n.*217G>A
ENST00000651202.1:c.*484G>A ENSP00000498222.1:n.*484G>A
ENST00000351698.4:c.*217G>A ENSP00000345719.4:n.*217G>A
ENST00000474192.1:n.800G>A
NM_000113.2:c.*217G>A NP_000104.1:n.*217G>A
XR_929731.3:n.1411G>A
NM_000113.3:c.*217G>A MANE Select NP_000104.1:n.*217G>A
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