Canonical Allele Identifier: CA1880971913

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814187G= , CM000671.2:g.129814187G=	GRCh38
NC_000009.11:g.132576466G= , CM000671.1:g.132576466G=	GRCh37
NC_000009.10:g.131616287G=	NCBI36
NG_008049.1:g.14976C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.784C= MANE Select	ENSP00000345719.4:p.Leu262=
ENST00000651202.1:c.*52C=	ENSP00000498222.1:n.*52C=
ENST00000351698.4:c.784C=	ENSP00000345719.4:p.Leu262=
ENST00000474192.1:n.368C=
NM_000113.2:c.784C=	NP_000104.1:p.Leu262=
XR_929731.1:n.1111C=
XR_929731.3:n.979C=
NM_000113.3:c.784C= MANE Select	NP_000104.1:p.Leu262=