Canonical Allele Identifier: CA371109464
Gene: THAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.42698188T>A (hg19) chr8:g.42843045T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42843045T>A , CM000670.2:g.42843045T>A GRCh38
NC_000008.10:g.42698188T>A , CM000670.1:g.42698188T>A GRCh37
NC_000008.9:g.42817345T>A NCBI36
NG_011837.1:g.5287A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.50A>T MANE Select ENSP00000254250.3:p.Asp17Val
ENST00000345117.2:c.50A>T ENSP00000344966.2:p.Asp17Val
ENST00000529779.1:c.50A>T ENSP00000433912.1:p.Asp17Val
NM_018105.2:c.50A>T NP_060575.1:p.Asp17Val
NM_199003.1:c.50A>T NP_945354.1:p.Asp17Val
NM_018105.3:c.50A>T MANE Select NP_060575.1:p.Asp17Val
NM_199003.2:c.50A>T NP_945354.1:p.Asp17Val
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