Canonical Allele Identifier: CA6991915
Gene: THSD1 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.52378171C>G
GRCh37 chr13:g.52952306C>G
Revel Score:
ENST00000349258 0.063
ENST00000544466 0.063
ENST00000258613 (MANE Select) 0.063
gnomAD v2:
13:52952306 C / G
gnomAD v4:
chr13-52378171-C-G
Joint Max Group AF 0.00012021 (EAS)
Exomes Max Group AF 0.00013578 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52378171C>G , CM000675.2:g.52378171C>G GRCh38
NC_000013.10:g.52952306C>G , CM000675.1:g.52952306C>G GRCh37
NC_000013.9:g.51850307C>G NCBI36
NG_047168.1:g.33324G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.1799G>C MANE Select ENSP00000258613.4:p.Gly600Ala
ENST00000648254.1:c.1640G>C ENSP00000497520.1:p.Gly547Ala
ENST00000258613.4:c.1799G>C ENSP00000258613.4:p.Gly600Ala
ENST00000349258.8:c.1640G>C ENSP00000340650.4:p.Gly547Ala
NM_018676.3:c.1799G>C NP_061146.1:p.Gly600Ala
NM_199263.2:c.1640G>C NP_954872.1:p.Gly547Ala
NM_018676.4:c.1799G>C MANE Select NP_061146.1:p.Gly600Ala
NM_199263.3:c.1640G>C NP_954872.1:p.Gly547Ala
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