Canonical Allele Identifier: CA1880978688
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818890C= , CM000671.2:g.129818890C= GRCh38
NC_000009.11:g.132581169C= , CM000671.1:g.132581169C= GRCh37
NC_000009.10:g.131620990C= NCBI36
NG_008049.1:g.10273G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.475G= MANE Select ENSP00000345719.4:p.Val159=
ENST00000651202.1:c.571G= ENSP00000498222.1:p.Val191=
ENST00000351698.4:c.475G= ENSP00000345719.4:p.Val159=
ENST00000473604.2:n.585G=
NM_000113.2:c.475G= NP_000104.1:p.Val159=
XR_929731.1:n.635G=
XR_929731.3:n.503G=
NM_000113.3:c.475G= MANE Select NP_000104.1:p.Val159=