Canonical Allele Identifier: CA581616616
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1289091536
gnomAD v2: 8-42694088-T-C
gnomAD v3: 8-42838945-T-C
gnomAD v4: 8-42838945-T-C
MyVariant Identifiers: chr8:g.42694088T>C (hg19) chr8:g.42838945T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838945T>C , CM000670.2:g.42838945T>C GRCh38
NC_000008.10:g.42694088T>C , CM000670.1:g.42694088T>C GRCh37
NC_000008.9:g.42813245T>C NCBI36
NG_011837.1:g.9387A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+241A>G MANE Select ENSP00000254250.3:n.267+241A>G
ENST00000345117.2:c.72-609A>G ENSP00000344966.2:n.72-609A>G
ENST00000529779.1:c.267+241A>G ENSP00000433912.1:n.267+241A>G
NM_018105.2:c.267+241A>G NP_060575.1:n.267+241A>G
NM_199003.1:c.72-609A>G NP_945354.1:n.72-609A>G
NM_018105.3:c.267+241A>G MANE Select NP_060575.1:n.267+241A>G
NM_199003.2:c.72-609A>G NP_945354.1:n.72-609A>G
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