Canonical Allele Identifier: CA467494052
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129818894-G-A
MyVariant Identifiers: chr9:g.132581173G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818894G>A , CM000671.2:g.129818894G>A GRCh38
NC_000009.11:g.132581173G>A , CM000671.1:g.132581173G>A GRCh37
NC_000009.10:g.131620994G>A NCBI36
NG_008049.1:g.10269C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.471C>T MANE Select ENSP00000345719.4:p.Gly157=
ENST00000651202.1:c.567C>T ENSP00000498222.1:p.Gly189=
ENST00000351698.4:c.471C>T ENSP00000345719.4:p.Gly157=
ENST00000473604.2:n.581C>T
NM_000113.2:c.471C>T NP_000104.1:p.Gly157=
XR_929731.1:n.631C>T
XR_929731.3:n.499C>T
NM_000113.3:c.471C>T MANE Select NP_000104.1:p.Gly157=
Search 100 bp 5'
Search 100 bp 3'