Canonical Allele Identifier: CA1880971969

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814202A= , CM000671.2:g.129814202A=	GRCh38
NC_000009.11:g.132576481A= , CM000671.1:g.132576481A=	GRCh37
NC_000009.10:g.131616302A=	NCBI36
NG_008049.1:g.14961T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.769T= MANE Select	ENSP00000345719.4:p.Leu257=
ENST00000651202.1:c.*37T=	ENSP00000498222.1:n.*37T=
ENST00000351698.4:c.769T=	ENSP00000345719.4:p.Leu257=
ENST00000474192.1:n.353T=
NM_000113.2:c.769T=	NP_000104.1:p.Leu257=
XR_929731.1:n.1096T=
XR_929731.3:n.964T=
NM_000113.3:c.769T= MANE Select	NP_000104.1:p.Leu257=