Canonical Allele Identifier: CA371109445
Gene: THAP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.42698180C>G (hg19) chr8:g.42843037C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42843037C>G , CM000670.2:g.42843037C>G GRCh38
NC_000008.10:g.42698180C>G , CM000670.1:g.42698180C>G GRCh37
NC_000008.9:g.42817337C>G NCBI36
NG_011837.1:g.5295G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254250.7:c.58G>C MANE Select ENSP00000254250.3:p.Val20Leu
ENST00000345117.2:c.58G>C ENSP00000344966.2:p.Val20Leu
ENST00000529779.1:c.58G>C ENSP00000433912.1:p.Val20Leu
NM_018105.2:c.58G>C NP_060575.1:p.Val20Leu
NM_199003.1:c.58G>C NP_945354.1:p.Val20Leu
NM_018105.3:c.58G>C MANE Select NP_060575.1:p.Val20Leu
NM_199003.2:c.58G>C NP_945354.1:p.Val20Leu
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