Canonical Allele Identifier: CA2692045528
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813883-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813883G>T , CM000671.2:g.129813883G>T GRCh38
NC_000009.11:g.132576162G>T , CM000671.1:g.132576162G>T GRCh37
NC_000009.10:g.131615983G>T NCBI36
NG_008049.1:g.15280C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*89C>A MANE Select ENSP00000345719.4:n.*89C>A
ENST00000651202.1:c.*356C>A ENSP00000498222.1:n.*356C>A
ENST00000351698.4:c.*89C>A ENSP00000345719.4:n.*89C>A
ENST00000474192.1:n.672C>A
NM_000113.2:c.*89C>A NP_000104.1:n.*89C>A
XR_929731.3:n.1283C>A
NM_000113.3:c.*89C>A MANE Select NP_000104.1:n.*89C>A
Search 100 bp 5'
Search 100 bp 3'