Canonical Allele Identifier: CA590944197
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1340663939
gnomAD v2: 9-132581227-C-T
gnomAD v4: 9-129818948-C-T
MyVariant Identifiers: chr9:g.132581227C>T (hg19) chr9:g.129818948C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818948C>T , CM000671.2:g.129818948C>T GRCh38
NC_000009.11:g.132581227C>T , CM000671.1:g.132581227C>T GRCh37
NC_000009.10:g.131621048C>T NCBI36
NG_008049.1:g.10215G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-28G>A MANE Select ENSP00000345719.4:n.445-28G>A
ENST00000651202.1:c.541-28G>A ENSP00000498222.1:n.541-28G>A
ENST00000351698.4:c.445-28G>A ENSP00000345719.4:n.445-28G>A
ENST00000473604.2:n.555-28G>A
NM_000113.2:c.445-28G>A NP_000104.1:n.445-28G>A
XR_929731.1:n.605-28G>A
XR_929731.3:n.473-28G>A
NM_000113.3:c.445-28G>A MANE Select NP_000104.1:n.445-28G>A
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