Canonical Allele Identifier: CA1880971962

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814200T= , CM000671.2:g.129814200T=	GRCh38
NC_000009.11:g.132576479T= , CM000671.1:g.132576479T=	GRCh37
NC_000009.10:g.131616300T=	NCBI36
NG_008049.1:g.14963A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.771A= MANE Select	ENSP00000345719.4:p.Leu257=
ENST00000651202.1:c.*39A=	ENSP00000498222.1:n.*39A=
ENST00000351698.4:c.771A=	ENSP00000345719.4:p.Leu257=
ENST00000474192.1:n.355A=
NM_000113.2:c.771A=	NP_000104.1:p.Leu257=
XR_929731.1:n.1098A=
XR_929731.3:n.966A=
NM_000113.3:c.771A= MANE Select	NP_000104.1:p.Leu257=