Canonical Allele Identifier: CA2692045291
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813585T>A , CM000671.2:g.129813585T>A GRCh38
NC_000009.11:g.132575864T>A , CM000671.1:g.132575864T>A GRCh37
NC_000009.10:g.131615685T>A NCBI36
NG_008049.1:g.15578A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*387A>T MANE Select ENSP00000345719.4:n.*387A>T
ENST00000651202.1:c.*654A>T ENSP00000498222.1:n.*654A>T
ENST00000351698.4:c.*387A>T ENSP00000345719.4:n.*387A>T
NM_000113.2:c.*387A>T NP_000104.1:n.*387A>T
XR_929731.3:n.1581A>T
NM_000113.3:c.*387A>T MANE Select NP_000104.1:n.*387A>T