Canonical Allele Identifier: CA5278536
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs772815759
ExAC: 9:132576477 A / G
gnomAD v2: 9-132576477-A-G
gnomAD v3: 9-129814198-A-G
gnomAD v4: 9-129814198-A-G
MyVariant Identifiers: chr9:g.132576477A>G (hg19) chr9:g.129814198A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814198A>G , CM000671.2:g.129814198A>G GRCh38
NC_000009.11:g.132576477A>G , CM000671.1:g.132576477A>G GRCh37
NC_000009.10:g.131616298A>G NCBI36
NG_008049.1:g.14965T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.773T>C MANE Select ENSP00000345719.4:p.Ile258Thr
ENST00000651202.1:c.*41T>C ENSP00000498222.1:n.*41T>C
ENST00000351698.4:c.773T>C ENSP00000345719.4:p.Ile258Thr
ENST00000474192.1:n.357T>C
NM_000113.2:c.773T>C NP_000104.1:p.Ile258Thr
XR_929731.1:n.1100T>C
XR_929731.3:n.968T>C
NM_000113.3:c.773T>C MANE Select NP_000104.1:p.Ile258Thr
Search 100 bp 5'
Search 100 bp 3'