Canonical Allele Identifier: CA371107666
Gene: THAP1 HGNC NCBI

Linked Data

gnomAD v4: 8-42839191-C-T
MyVariant Identifiers: chr8:g.42694334C>T (hg19) chr8:g.42839191C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42839191C>T , CM000670.2:g.42839191C>T GRCh38
NC_000008.10:g.42694334C>T , CM000670.1:g.42694334C>T GRCh37
NC_000008.9:g.42813491C>T NCBI36
NG_011837.1:g.9141G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.262G>A MANE Select ENSP00000254250.3:p.Asp88Asn
ENST00000345117.2:c.72-855G>A ENSP00000344966.2:n.72-855G>A
ENST00000529779.1:c.262G>A ENSP00000433912.1:p.Asp88Asn
NM_018105.2:c.262G>A NP_060575.1:p.Asp88Asn
NM_199003.1:c.72-855G>A NP_945354.1:n.72-855G>A
NM_018105.3:c.262G>A MANE Select NP_060575.1:p.Asp88Asn
NM_199003.2:c.72-855G>A NP_945354.1:n.72-855G>A
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