Canonical Allele Identifier: CA1880971505
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814022T= , CM000671.2:g.129814022T= GRCh38
NC_000009.11:g.132576301T= , CM000671.1:g.132576301T= GRCh37
NC_000009.10:g.131616122T= NCBI36
NG_008049.1:g.15141A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.949A= MANE Select ENSP00000345719.4:p.Lys317=
ENST00000651202.1:c.*217A= ENSP00000498222.1:n.*217A=
ENST00000351698.4:c.949A= ENSP00000345719.4:p.Lys317=
ENST00000474192.1:n.533A=
NM_000113.2:c.949A= NP_000104.1:p.Lys317=
XR_929731.3:n.1144A=
NM_000113.3:c.949A= MANE Select NP_000104.1:p.Lys317=