Canonical Allele Identifier: CA467493683
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814017-G-C
MyVariant Identifiers: chr9:g.132576296G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814017G>C , CM000671.2:g.129814017G>C GRCh38
NC_000009.11:g.132576296G>C , CM000671.1:g.132576296G>C GRCh37
NC_000009.10:g.131616117G>C NCBI36
NG_008049.1:g.15146C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.954C>G MANE Select ENSP00000345719.4:p.Gly318=
ENST00000651202.1:c.*222C>G ENSP00000498222.1:n.*222C>G
ENST00000351698.4:c.954C>G ENSP00000345719.4:p.Gly318=
ENST00000474192.1:n.538C>G
NM_000113.2:c.954C>G NP_000104.1:p.Gly318=
XR_929731.3:n.1149C>G
NM_000113.3:c.954C>G MANE Select NP_000104.1:p.Gly318=
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