Canonical Allele Identifier: CA1880971985

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814215G= , CM000671.2:g.129814215G=	GRCh38
NC_000009.11:g.132576494G= , CM000671.1:g.132576494G=	GRCh37
NC_000009.10:g.131616315G=	NCBI36
NG_008049.1:g.14948C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.756C= MANE Select	ENSP00000345719.4:p.Phe252=
ENST00000651202.1:c.*24C=	ENSP00000498222.1:n.*24C=
ENST00000351698.4:c.756C=	ENSP00000345719.4:p.Phe252=
ENST00000474192.1:n.340C=
NM_000113.2:c.756C=	NP_000104.1:p.Phe252=
XR_929731.1:n.1083C=
XR_929731.3:n.951C=
NM_000113.3:c.756C= MANE Select	NP_000104.1:p.Phe252=