Canonical Allele Identifier: CA860375967
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs545979331
gnomAD v3: 9-129814313-G-A
gnomAD v4: 9-129814313-G-A
MyVariant Identifiers: chr9:g.132576592G>A (hg19) chr9:g.129814313G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814313G>A , CM000671.2:g.129814313G>A GRCh38
NC_000009.11:g.132576592G>A , CM000671.1:g.132576592G>A GRCh37
NC_000009.10:g.131616413G>A NCBI36
NG_008049.1:g.14850C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-91C>T MANE Select ENSP00000345719.4:n.749-91C>T
ENST00000651202.1:c.*17-91C>T ENSP00000498222.1:n.*17-91C>T
ENST00000351698.4:c.749-91C>T ENSP00000345719.4:n.749-91C>T
ENST00000474192.1:n.333-91C>T
NM_000113.2:c.749-91C>T NP_000104.1:n.749-91C>T
XR_929731.1:n.1076-91C>T
XR_929731.3:n.944-91C>T
NM_000113.3:c.749-91C>T MANE Select NP_000104.1:n.749-91C>T
Search 100 bp 5'
Search 100 bp 3'