Canonical Allele Identifier: CA371109443
Gene: THAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42843036A>G , CM000670.2:g.42843036A>G GRCh38
NC_000008.10:g.42698179A>G , CM000670.1:g.42698179A>G GRCh37
NC_000008.9:g.42817336A>G NCBI36
NG_011837.1:g.5296T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254250.7:c.59T>C MANE Select ENSP00000254250.3:p.Val20Ala
ENST00000345117.2:c.59T>C ENSP00000344966.2:p.Val20Ala
ENST00000529779.1:c.59T>C ENSP00000433912.1:p.Val20Ala
NM_018105.2:c.59T>C NP_060575.1:p.Val20Ala
NM_199003.1:c.59T>C NP_945354.1:p.Val20Ala
NM_018105.3:c.59T>C MANE Select NP_060575.1:p.Val20Ala
NM_199003.2:c.59T>C NP_945354.1:p.Val20Ala