Canonical Allele Identifier: CA375197980
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2030972895
gnomAD v3: 9-129814187-G-A
gnomAD v4: 9-129814187-G-A
MyVariant Identifiers: chr9:g.132576466G>A (hg19) chr9:g.129814187G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814187G>A , CM000671.2:g.129814187G>A GRCh38
NC_000009.11:g.132576466G>A , CM000671.1:g.132576466G>A GRCh37
NC_000009.10:g.131616287G>A NCBI36
NG_008049.1:g.14976C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.784C>T MANE Select ENSP00000345719.4:p.Leu262Phe
ENST00000651202.1:c.*52C>T ENSP00000498222.1:n.*52C>T
ENST00000351698.4:c.784C>T ENSP00000345719.4:p.Leu262Phe
ENST00000474192.1:n.368C>T
NM_000113.2:c.784C>T NP_000104.1:p.Leu262Phe
XR_929731.1:n.1111C>T
XR_929731.3:n.979C>T
NM_000113.3:c.784C>T MANE Select NP_000104.1:p.Leu262Phe
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