Canonical Allele Identifier: CA1880978699
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818891G= , CM000671.2:g.129818891G= GRCh38
NC_000009.11:g.132581170G= , CM000671.1:g.132581170G= GRCh37
NC_000009.10:g.131620991G= NCBI36
NG_008049.1:g.10272C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.474C= MANE Select ENSP00000345719.4:p.Asn158=
ENST00000651202.1:c.570C= ENSP00000498222.1:p.Asn190=
ENST00000351698.4:c.474C= ENSP00000345719.4:p.Asn158=
ENST00000473604.2:n.584C=
NM_000113.2:c.474C= NP_000104.1:p.Asn158=
XR_929731.1:n.634C=
XR_929731.3:n.502C=
NM_000113.3:c.474C= MANE Select NP_000104.1:p.Asn158=