Canonical Allele Identifier: CA467493982
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs576068168
gnomAD v4: 9-129818876-C-G
MyVariant Identifiers: chr9:g.132581155C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818876C>G , CM000671.2:g.129818876C>G GRCh38
NC_000009.11:g.132581155C>G , CM000671.1:g.132581155C>G GRCh37
NC_000009.10:g.131620976C>G NCBI36
NG_008049.1:g.10287G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.489G>C MANE Select ENSP00000345719.4:p.Ala163=
ENST00000651202.1:c.585G>C ENSP00000498222.1:p.Ala195=
ENST00000351698.4:c.489G>C ENSP00000345719.4:p.Ala163=
ENST00000473604.2:n.599G>C
NM_000113.2:c.489G>C NP_000104.1:p.Ala163=
XR_929731.1:n.649G>C
XR_929731.3:n.517G>C
NM_000113.3:c.489G>C MANE Select NP_000104.1:p.Ala163=
Search 100 bp 5'
Search 100 bp 3'