Canonical Allele Identifier: CA2692045221
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813531-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813531T>A , CM000671.2:g.129813531T>A GRCh38
NC_000009.11:g.132575810T>A , CM000671.1:g.132575810T>A GRCh37
NC_000009.10:g.131615631T>A NCBI36
NG_008049.1:g.15632A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*441A>T MANE Select ENSP00000345719.4:n.*441A>T
ENST00000651202.1:c.*708A>T ENSP00000498222.1:n.*708A>T
ENST00000351698.4:c.*441A>T ENSP00000345719.4:n.*441A>T
NM_000113.2:c.*441A>T NP_000104.1:n.*441A>T
XR_929731.3:n.1635A>T
NM_000113.3:c.*441A>T MANE Select NP_000104.1:n.*441A>T
Search 100 bp 5'
Search 100 bp 3'