Canonical Allele Identifier: CA375197930
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814176A>C , CM000671.2:g.129814176A>C GRCh38
NC_000009.11:g.132576455A>C , CM000671.1:g.132576455A>C GRCh37
NC_000009.10:g.131616276A>C NCBI36
NG_008049.1:g.14987T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.795T>G MANE Select ENSP00000345719.4:p.Tyr265Ter
ENST00000651202.1:c.*63T>G ENSP00000498222.1:n.*63T>G
ENST00000351698.4:c.795T>G ENSP00000345719.4:p.Tyr265Ter
ENST00000474192.1:n.379T>G
NM_000113.2:c.795T>G NP_000104.1:p.Tyr265Ter
XR_929731.1:n.1122T>G
XR_929731.3:n.990T>G
NM_000113.3:c.795T>G MANE Select NP_000104.1:p.Tyr265Ter