Canonical Allele Identifier: CA467493891
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2030972972
gnomAD v4: 9-129814191-C-G
MyVariant Identifiers: chr9:g.132576470C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814191C>G , CM000671.2:g.129814191C>G GRCh38
NC_000009.11:g.132576470C>G , CM000671.1:g.132576470C>G GRCh37
NC_000009.10:g.131616291C>G NCBI36
NG_008049.1:g.14972G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.780G>C MANE Select ENSP00000345719.4:p.Arg260=
ENST00000651202.1:c.*48G>C ENSP00000498222.1:n.*48G>C
ENST00000351698.4:c.780G>C ENSP00000345719.4:p.Arg260=
ENST00000474192.1:n.364G>C
NM_000113.2:c.780G>C NP_000104.1:p.Arg260=
XR_929731.1:n.1107G>C
XR_929731.3:n.975G>C
NM_000113.3:c.780G>C MANE Select NP_000104.1:p.Arg260=
Search 100 bp 5'
Search 100 bp 3'