Canonical Allele Identifier: CA388037109
Gene: THSD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2512339
ClinVar RCV Id: RCV004288744
MyVariant Identifiers: chr13:g.52971691G>C (hg19) chr13:g.52397556G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397556G>C , CM000675.2:g.52397556G>C GRCh38
NC_000013.10:g.52971691G>C , CM000675.1:g.52971691G>C GRCh37
NC_000013.9:g.51869692G>C NCBI36
NG_047168.1:g.13939C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.697C>G MANE Select ENSP00000258613.4:p.Pro233Ala
ENST00000648254.1:c.697C>G ENSP00000497520.1:p.Pro233Ala
ENST00000258613.4:c.697C>G ENSP00000258613.4:p.Pro233Ala
ENST00000349258.8:c.697C>G ENSP00000340650.4:p.Pro233Ala
NM_018676.3:c.697C>G NP_061146.1:p.Pro233Ala
NM_199263.2:c.697C>G NP_954872.1:p.Pro233Ala
NM_018676.4:c.697C>G MANE Select NP_061146.1:p.Pro233Ala
NM_199263.3:c.697C>G NP_954872.1:p.Pro233Ala
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