Canonical Allele Identifier: CA200533550
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1011968829
gnomAD v4: 9-129813592-A-G
MyVariant Identifiers: chr9:g.132575871A>G (hg19) chr9:g.129813592A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813592A>G , CM000671.2:g.129813592A>G GRCh38
NC_000009.11:g.132575871A>G , CM000671.1:g.132575871A>G GRCh37
NC_000009.10:g.131615692A>G NCBI36
NG_008049.1:g.15571T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*380T>C MANE Select ENSP00000345719.4:n.*380T>C
ENST00000651202.1:c.*647T>C ENSP00000498222.1:n.*647T>C
ENST00000351698.4:c.*380T>C ENSP00000345719.4:n.*380T>C
NM_000113.2:c.*380T>C NP_000104.1:n.*380T>C
XR_929731.3:n.1574T>C
NM_000113.3:c.*380T>C MANE Select NP_000104.1:n.*380T>C
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