Canonical Allele Identifier: CA388037312
Gene: THSD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397597A>C , CM000675.2:g.52397597A>C GRCh38
NC_000013.10:g.52971732A>C , CM000675.1:g.52971732A>C GRCh37
NC_000013.9:g.51869733A>C NCBI36
NG_047168.1:g.13898T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.656T>G MANE Select ENSP00000258613.4:p.Leu219Arg
ENST00000648254.1:c.656T>G ENSP00000497520.1:p.Leu219Arg
ENST00000258613.4:c.656T>G ENSP00000258613.4:p.Leu219Arg
ENST00000349258.8:c.656T>G ENSP00000340650.4:p.Leu219Arg
NM_018676.3:c.656T>G NP_061146.1:p.Leu219Arg
NM_199263.2:c.656T>G NP_954872.1:p.Leu219Arg
NM_018676.4:c.656T>G MANE Select NP_061146.1:p.Leu219Arg
NM_199263.3:c.656T>G NP_954872.1:p.Leu219Arg