Canonical Allele Identifier: CA1880971106
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813780G= , CM000671.2:g.129813780G= GRCh38
NC_000009.11:g.132576059G= , CM000671.1:g.132576059G= GRCh37
NC_000009.10:g.131615880G= NCBI36
NG_008049.1:g.15383C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*192C= MANE Select ENSP00000345719.4:n.*192C=
ENST00000651202.1:c.*459C= ENSP00000498222.1:n.*459C=
ENST00000351698.4:c.*192C= ENSP00000345719.4:n.*192C=
ENST00000474192.1:n.775C=
NM_000113.2:c.*192C= NP_000104.1:n.*192C=
XR_929731.3:n.1386C=
NM_000113.3:c.*192C= MANE Select NP_000104.1:n.*192C=