Canonical Allele Identifier: CA6992203
Gene: THSD1 HGNC NCBI

Linked Data

dbSNP Id: rs538776507
ExAC: 13:52971961 C / T
gnomAD v2: 13-52971961-C-T
gnomAD v4: 13-52397826-C-T
MyVariant Identifiers: chr13:g.52971961C>T (hg19) chr13:g.52397826C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397826C>T , CM000675.2:g.52397826C>T GRCh38
NC_000013.10:g.52971961C>T , CM000675.1:g.52971961C>T GRCh37
NC_000013.9:g.51869962C>T NCBI36
NG_047168.1:g.13669G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.427G>A MANE Select ENSP00000258613.4:p.Gly143Ser
ENST00000648254.1:c.427G>A ENSP00000497520.1:p.Gly143Ser
ENST00000258613.4:c.427G>A ENSP00000258613.4:p.Gly143Ser
ENST00000349258.8:c.427G>A ENSP00000340650.4:p.Gly143Ser
NM_018676.3:c.427G>A NP_061146.1:p.Gly143Ser
NM_199263.2:c.427G>A NP_954872.1:p.Gly143Ser
NM_018676.4:c.427G>A MANE Select NP_061146.1:p.Gly143Ser
NM_199263.3:c.427G>A NP_954872.1:p.Gly143Ser
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