Canonical Allele Identifier: CA860379045
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1260123750

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129819039C>G , CM000671.2:g.129819039C>G GRCh38
NC_000009.11:g.132581318C>G , CM000671.1:g.132581318C>G GRCh37
NC_000009.10:g.131621139C>G NCBI36
NG_008049.1:g.10124G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-119G>C MANE Select ENSP00000345719.4:n.445-119G>C
ENST00000651202.1:c.541-119G>C ENSP00000498222.1:n.541-119G>C
ENST00000351698.4:c.445-119G>C ENSP00000345719.4:n.445-119G>C
ENST00000473604.2:n.555-119G>C
NM_000113.2:c.445-119G>C NP_000104.1:n.445-119G>C
XR_929731.1:n.605-119G>C
XR_929731.3:n.473-119G>C
NM_000113.3:c.445-119G>C MANE Select NP_000104.1:n.445-119G>C