Canonical Allele Identifier: CA1880971855

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814163G= , CM000671.2:g.129814163G=	GRCh38
NC_000009.11:g.132576442G= , CM000671.1:g.132576442G=	GRCh37
NC_000009.10:g.131616263G=	NCBI36
NG_008049.1:g.15000C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.808C= MANE Select	ENSP00000345719.4:p.Leu270=
ENST00000651202.1:c.*76C=	ENSP00000498222.1:n.*76C=
ENST00000351698.4:c.808C=	ENSP00000345719.4:p.Leu270=
ENST00000474192.1:n.392C=
NM_000113.2:c.808C=	NP_000104.1:p.Leu270=
XR_929731.1:n.1135C=
XR_929731.3:n.1003C=
NM_000113.3:c.808C= MANE Select	NP_000104.1:p.Leu270=