Canonical Allele Identifier: CA860375307
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1274159122
gnomAD v3: 9-129813774-G-A
gnomAD v4: 9-129813774-G-A
MyVariant Identifiers: chr9:g.132576053G>A (hg19) chr9:g.129813774G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813774G>A , CM000671.2:g.129813774G>A GRCh38
NC_000009.11:g.132576053G>A , CM000671.1:g.132576053G>A GRCh37
NC_000009.10:g.131615874G>A NCBI36
NG_008049.1:g.15389C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*198C>T MANE Select ENSP00000345719.4:n.*198C>T
ENST00000651202.1:c.*465C>T ENSP00000498222.1:n.*465C>T
ENST00000351698.4:c.*198C>T ENSP00000345719.4:n.*198C>T
ENST00000474192.1:n.781C>T
NM_000113.2:c.*198C>T NP_000104.1:n.*198C>T
XR_929731.3:n.1392C>T
NM_000113.3:c.*198C>T MANE Select NP_000104.1:n.*198C>T
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