Canonical Allele Identifier: CA375197643
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1220003400
gnomAD v2: 9-132576342-T-C
MyVariant Identifiers: chr9:g.132576342T>C (hg19) chr9:g.129814063T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814063T>C , CM000671.2:g.129814063T>C GRCh38
NC_000009.11:g.132576342T>C , CM000671.1:g.132576342T>C GRCh37
NC_000009.10:g.131616163T>C NCBI36
NG_008049.1:g.15100A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.908A>G MANE Select ENSP00000345719.4:p.Glu303Gly
ENST00000651202.1:c.*176A>G ENSP00000498222.1:n.*176A>G
ENST00000351698.4:c.908A>G ENSP00000345719.4:p.Glu303Gly
ENST00000474192.1:n.492A>G
NM_000113.2:c.908A>G NP_000104.1:p.Glu303Gly
XR_929731.1:n.1235A>G
XR_929731.3:n.1103A>G
NM_000113.3:c.908A>G MANE Select NP_000104.1:p.Glu303Gly
Search 100 bp 5'
Search 100 bp 3'