Canonical Allele Identifier: CA200533642
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1004747066
gnomAD v3: 9-129813927-T-A
gnomAD v4: 9-129813927-T-A
MyVariant Identifiers: chr9:g.132576206T>A (hg19) chr9:g.129813927T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813927T>A , CM000671.2:g.129813927T>A GRCh38
NC_000009.11:g.132576206T>A , CM000671.1:g.132576206T>A GRCh37
NC_000009.10:g.131616027T>A NCBI36
NG_008049.1:g.15236A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*45A>T MANE Select ENSP00000345719.4:n.*45A>T
ENST00000651202.1:c.*312A>T ENSP00000498222.1:n.*312A>T
ENST00000351698.4:c.*45A>T ENSP00000345719.4:n.*45A>T
ENST00000474192.1:n.628A>T
NM_000113.2:c.*45A>T NP_000104.1:n.*45A>T
XR_929731.3:n.1239A>T
NM_000113.3:c.*45A>T MANE Select NP_000104.1:n.*45A>T
Search 100 bp 5'
Search 100 bp 3'