Canonical Allele Identifier: CA375197768

Gene: TOR1A

Linked Data

• MyVariant Identifiers: chr9:g.132576398T>A (hg19) ; chr9:g.129814119T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814119T>A , CM000671.2:g.129814119T>A	GRCh38
NC_000009.11:g.132576398T>A , CM000671.1:g.132576398T>A	GRCh37
NC_000009.10:g.131616219T>A	NCBI36
NG_008049.1:g.15044A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.852A>T MANE Select	ENSP00000345719.4:p.Glu284Asp
ENST00000651202.1:c.*120A>T	ENSP00000498222.1:n.*120A>T
ENST00000351698.4:c.852A>T	ENSP00000345719.4:p.Glu284Asp
ENST00000474192.1:n.436A>T
NM_000113.2:c.852A>T	NP_000104.1:p.Glu284Asp
XR_929731.1:n.1179A>T
XR_929731.3:n.1047A>T
NM_000113.3:c.852A>T MANE Select	NP_000104.1:p.Glu284Asp