Canonical Allele Identifier: CA1129454888
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2031117205
gnomAD v3: 9-129819129-G-A
gnomAD v4: 9-129819129-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819129G>A , CM000671.2:g.129819129G>A GRCh38
NC_000009.11:g.132581408G>A , CM000671.1:g.132581408G>A GRCh37
NC_000009.10:g.131621229G>A NCBI36
NG_008049.1:g.10034C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-209C>T MANE Select ENSP00000345719.4:n.445-209C>T
ENST00000651202.1:c.541-209C>T ENSP00000498222.1:n.541-209C>T
ENST00000351698.4:c.445-209C>T ENSP00000345719.4:n.445-209C>T
ENST00000473604.2:n.555-209C>T
NM_000113.2:c.445-209C>T NP_000104.1:n.445-209C>T
XR_929731.1:n.605-209C>T
XR_929731.3:n.473-209C>T
NM_000113.3:c.445-209C>T MANE Select NP_000104.1:n.445-209C>T
Search 100 bp 5'
Search 100 bp 3'