Canonical Allele Identifier: CA388037346
Gene: THSD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397604C>G , CM000675.2:g.52397604C>G GRCh38
NC_000013.10:g.52971739C>G , CM000675.1:g.52971739C>G GRCh37
NC_000013.9:g.51869740C>G NCBI36
NG_047168.1:g.13891G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.649G>C MANE Select ENSP00000258613.4:p.Val217Leu
ENST00000648254.1:c.649G>C ENSP00000497520.1:p.Val217Leu
ENST00000258613.4:c.649G>C ENSP00000258613.4:p.Val217Leu
ENST00000349258.8:c.649G>C ENSP00000340650.4:p.Val217Leu
NM_018676.3:c.649G>C NP_061146.1:p.Val217Leu
NM_199263.2:c.649G>C NP_954872.1:p.Val217Leu
NM_018676.4:c.649G>C MANE Select NP_061146.1:p.Val217Leu
NM_199263.3:c.649G>C NP_954872.1:p.Val217Leu