Canonical Allele Identifier: CA2692045277
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813572C>A , CM000671.2:g.129813572C>A GRCh38
NC_000009.11:g.132575851C>A , CM000671.1:g.132575851C>A GRCh37
NC_000009.10:g.131615672C>A NCBI36
NG_008049.1:g.15591G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*400G>T MANE Select ENSP00000345719.4:n.*400G>T
ENST00000651202.1:c.*667G>T ENSP00000498222.1:n.*667G>T
ENST00000351698.4:c.*400G>T ENSP00000345719.4:n.*400G>T
NM_000113.2:c.*400G>T NP_000104.1:n.*400G>T
XR_929731.3:n.1594G>T
NM_000113.3:c.*400G>T MANE Select NP_000104.1:n.*400G>T