Canonical Allele Identifier: CA1880971865
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814172C= , CM000671.2:g.129814172C= GRCh38
NC_000009.11:g.132576451C= , CM000671.1:g.132576451C= GRCh37
NC_000009.10:g.131616272C= NCBI36
NG_008049.1:g.14991G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.799G= MANE Select ENSP00000345719.4:p.Val267=
ENST00000651202.1:c.*67G= ENSP00000498222.1:n.*67G=
ENST00000351698.4:c.799G= ENSP00000345719.4:p.Val267=
ENST00000474192.1:n.383G=
NM_000113.2:c.799G= NP_000104.1:p.Val267=
XR_929731.1:n.1126G=
XR_929731.3:n.994G=
NM_000113.3:c.799G= MANE Select NP_000104.1:p.Val267=