Canonical Allele Identifier: CA2692045296

Gene: TOR1A

Linked Data

• gnomAD v4: 9-129813588-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813588G>A , CM000671.2:g.129813588G>A	GRCh38
NC_000009.11:g.132575867G>A , CM000671.1:g.132575867G>A	GRCh37
NC_000009.10:g.131615688G>A	NCBI36
NG_008049.1:g.15575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.*384C>T MANE Select	ENSP00000345719.4:n.*384C>T
ENST00000651202.1:c.*651C>T	ENSP00000498222.1:n.*651C>T
ENST00000351698.4:c.*384C>T	ENSP00000345719.4:n.*384C>T
NM_000113.2:c.*384C>T	NP_000104.1:n.*384C>T
XR_929731.3:n.1578C>T
NM_000113.3:c.*384C>T MANE Select	NP_000104.1:n.*384C>T