Canonical Allele Identifier: CA2687126240
Gene: THAP1 HGNC NCBI

Linked Data

gnomAD v4: 8-42839144-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42839144T>C , CM000670.2:g.42839144T>C GRCh38
NC_000008.10:g.42694287T>C , CM000670.1:g.42694287T>C GRCh37
NC_000008.9:g.42813444T>C NCBI36
NG_011837.1:g.9188A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000254250.7:c.267+42A>G MANE Select ENSP00000254250.3:n.267+42A>G
ENST00000345117.2:c.72-808A>G ENSP00000344966.2:n.72-808A>G
ENST00000529779.1:c.267+42A>G ENSP00000433912.1:n.267+42A>G
NM_018105.2:c.267+42A>G NP_060575.1:n.267+42A>G
NM_199003.1:c.72-808A>G NP_945354.1:n.72-808A>G
NM_018105.3:c.267+42A>G MANE Select NP_060575.1:n.267+42A>G
NM_199003.2:c.72-808A>G NP_945354.1:n.72-808A>G
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