Canonical Allele Identifier: CA388039292
Gene: THSD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397904A>G , CM000675.2:g.52397904A>G GRCh38
NC_000013.10:g.52972039A>G , CM000675.1:g.52972039A>G GRCh37
NC_000013.9:g.51870040A>G NCBI36
NG_047168.1:g.13591T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.349T>C MANE Select ENSP00000258613.4:p.Trp117Arg
ENST00000648254.1:c.349T>C ENSP00000497520.1:p.Trp117Arg
ENST00000258613.4:c.349T>C ENSP00000258613.4:p.Trp117Arg
ENST00000349258.8:c.349T>C ENSP00000340650.4:p.Trp117Arg
NM_018676.3:c.349T>C NP_061146.1:p.Trp117Arg
NM_199263.2:c.349T>C NP_954872.1:p.Trp117Arg
NM_018676.4:c.349T>C MANE Select NP_061146.1:p.Trp117Arg
NM_199263.3:c.349T>C NP_954872.1:p.Trp117Arg