Canonical Allele Identifier: CA590684960
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1313515668
gnomAD v2: 9-132575816-T-G
gnomAD v3: 9-129813537-T-G
gnomAD v4: 9-129813537-T-G
MyVariant Identifiers: chr9:g.132575816T>G (hg19) chr9:g.129813537T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813537T>G , CM000671.2:g.129813537T>G GRCh38
NC_000009.11:g.132575816T>G , CM000671.1:g.132575816T>G GRCh37
NC_000009.10:g.131615637T>G NCBI36
NG_008049.1:g.15626A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*435A>C MANE Select ENSP00000345719.4:n.*435A>C
ENST00000651202.1:c.*702A>C ENSP00000498222.1:n.*702A>C
ENST00000351698.4:c.*435A>C ENSP00000345719.4:n.*435A>C
NM_000113.2:c.*435A>C NP_000104.1:n.*435A>C
XR_929731.3:n.1629A>C
NM_000113.3:c.*435A>C MANE Select NP_000104.1:n.*435A>C
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