Canonical Allele Identifier: CA1880971915
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814191C= , CM000671.2:g.129814191C= GRCh38
NC_000009.11:g.132576470C= , CM000671.1:g.132576470C= GRCh37
NC_000009.10:g.131616291C= NCBI36
NG_008049.1:g.14972G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.780G= MANE Select ENSP00000345719.4:p.Arg260=
ENST00000651202.1:c.*48G= ENSP00000498222.1:n.*48G=
ENST00000351698.4:c.780G= ENSP00000345719.4:p.Arg260=
ENST00000474192.1:n.364G=
NM_000113.2:c.780G= NP_000104.1:p.Arg260=
XR_929731.1:n.1107G=
XR_929731.3:n.975G=
NM_000113.3:c.780G= MANE Select NP_000104.1:p.Arg260=