Canonical Allele Identifier: CA388037261

Gene: THSD1

Linked Data

• dbSNP Id: rs1957821486
• gnomAD v3: 13-52397586-C-T
• gnomAD v4: 13-52397586-C-T
• MyVariant Identifiers: chr13:g.52971721C>T (hg19) ; chr13:g.52397586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52397586C>T , CM000675.2:g.52397586C>T	GRCh38
NC_000013.10:g.52971721C>T , CM000675.1:g.52971721C>T	GRCh37
NC_000013.9:g.51869722C>T	NCBI36
NG_047168.1:g.13909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258613.5:c.667G>A MANE Select	ENSP00000258613.4:p.Gly223Arg
ENST00000648254.1:c.667G>A	ENSP00000497520.1:p.Gly223Arg
ENST00000258613.4:c.667G>A	ENSP00000258613.4:p.Gly223Arg
ENST00000349258.8:c.667G>A	ENSP00000340650.4:p.Gly223Arg
NM_018676.3:c.667G>A	NP_061146.1:p.Gly223Arg
NM_199263.2:c.667G>A	NP_954872.1:p.Gly223Arg
NM_018676.4:c.667G>A MANE Select	NP_061146.1:p.Gly223Arg
NM_199263.3:c.667G>A	NP_954872.1:p.Gly223Arg