Canonical Allele Identifier: CA375197789
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814131A>C , CM000671.2:g.129814131A>C GRCh38
NC_000009.11:g.132576410A>C , CM000671.1:g.132576410A>C GRCh37
NC_000009.10:g.131616231A>C NCBI36
NG_008049.1:g.15032T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.840T>G MANE Select ENSP00000345719.4:p.Cys280Trp
ENST00000651202.1:c.*108T>G ENSP00000498222.1:n.*108T>G
ENST00000351698.4:c.840T>G ENSP00000345719.4:p.Cys280Trp
ENST00000474192.1:n.424T>G
NM_000113.2:c.840T>G NP_000104.1:p.Cys280Trp
XR_929731.1:n.1167T>G
XR_929731.3:n.1035T>G
NM_000113.3:c.840T>G MANE Select NP_000104.1:p.Cys280Trp