Canonical Allele Identifier: CA388037133
Gene: THSD1 HGNC NCBI

Linked Data

gnomAD v4: 13-52397562-T-C
MyVariant Identifiers: chr13:g.52971697T>C (hg19) chr13:g.52397562T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52397562T>C , CM000675.2:g.52397562T>C GRCh38
NC_000013.10:g.52971697T>C , CM000675.1:g.52971697T>C GRCh37
NC_000013.9:g.51869698T>C NCBI36
NG_047168.1:g.13933A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258613.5:c.691A>G MANE Select ENSP00000258613.4:p.Thr231Ala
ENST00000648254.1:c.691A>G ENSP00000497520.1:p.Thr231Ala
ENST00000258613.4:c.691A>G ENSP00000258613.4:p.Thr231Ala
ENST00000349258.8:c.691A>G ENSP00000340650.4:p.Thr231Ala
NM_018676.3:c.691A>G NP_061146.1:p.Thr231Ala
NM_199263.2:c.691A>G NP_954872.1:p.Thr231Ala
NM_018676.4:c.691A>G MANE Select NP_061146.1:p.Thr231Ala
NM_199263.3:c.691A>G NP_954872.1:p.Thr231Ala
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