Canonical Allele Identifier: CA1880971922
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814193G= , CM000671.2:g.129814193G= GRCh38
NC_000009.11:g.132576472G= , CM000671.1:g.132576472G= GRCh37
NC_000009.10:g.131616293G= NCBI36
NG_008049.1:g.14970C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.778C= MANE Select ENSP00000345719.4:p.Arg260=
ENST00000651202.1:c.*46C= ENSP00000498222.1:n.*46C=
ENST00000351698.4:c.778C= ENSP00000345719.4:p.Arg260=
ENST00000474192.1:n.362C=
NM_000113.2:c.778C= NP_000104.1:p.Arg260=
XR_929731.1:n.1105C=
XR_929731.3:n.973C=
NM_000113.3:c.778C= MANE Select NP_000104.1:p.Arg260=