Canonical Allele Identifier: CA590684985
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1474570288
gnomAD v2: 9-132575941-C-G
MyVariant Identifiers: chr9:g.132575941C>G (hg19) chr9:g.129813662C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813662C>G , CM000671.2:g.129813662C>G GRCh38
NC_000009.11:g.132575941C>G , CM000671.1:g.132575941C>G GRCh37
NC_000009.10:g.131615762C>G NCBI36
NG_008049.1:g.15501G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*310G>C MANE Select ENSP00000345719.4:n.*310G>C
ENST00000651202.1:c.*577G>C ENSP00000498222.1:n.*577G>C
ENST00000351698.4:c.*310G>C ENSP00000345719.4:n.*310G>C
ENST00000474192.1:n.893G>C
NM_000113.2:c.*310G>C NP_000104.1:n.*310G>C
XR_929731.3:n.1504G>C
NM_000113.3:c.*310G>C MANE Select NP_000104.1:n.*310G>C
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