Canonical Allele Identifier: CA199702
Gene: THSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 190456
ClinVar RCV Id: RCV000170576
dbSNP Id: rs786205669
gnomAD v4: 13-52397636-C-T
MyVariant Identifiers: chr13:g.52971771C>T (hg19) chr13:g.52397636C>T (hg38)
PubMed: PMID:26036949
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397636C>T , CM000675.2:g.52397636C>T GRCh38
NC_000013.10:g.52971771C>T , CM000675.1:g.52971771C>T GRCh37
NC_000013.9:g.51869772C>T NCBI36
NG_047168.1:g.13859G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258613.5:c.617G>A MANE Select ENSP00000258613.4:p.Cys206Tyr
ENST00000648254.1:c.617G>A ENSP00000497520.1:p.Cys206Tyr
ENST00000258613.4:c.617G>A ENSP00000258613.4:p.Cys206Tyr
ENST00000349258.8:c.617G>A ENSP00000340650.4:p.Cys206Tyr
NM_018676.3:c.617G>A NP_061146.1:p.Cys206Tyr
NM_199263.2:c.617G>A NP_954872.1:p.Cys206Tyr
NM_018676.4:c.617G>A MANE Select NP_061146.1:p.Cys206Tyr
NM_199263.3:c.617G>A NP_954872.1:p.Cys206Tyr
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