Canonical Allele Identifier: CA176034468
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs943333853
gnomAD v2: 8-42693885-T-A
gnomAD v3: 8-42838742-T-A
gnomAD v4: 8-42838742-T-A
MyVariant Identifiers: chr8:g.42693885T>A (hg19) chr8:g.42838742T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838742T>A , CM000670.2:g.42838742T>A GRCh38
NC_000008.10:g.42693885T>A , CM000670.1:g.42693885T>A GRCh37
NC_000008.9:g.42813042T>A NCBI36
NG_011837.1:g.9590A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.268-406A>T MANE Select ENSP00000254250.3:n.268-406A>T
ENST00000345117.2:c.72-406A>T ENSP00000344966.2:n.72-406A>T
ENST00000529779.1:c.267+444A>T ENSP00000433912.1:n.267+444A>T
NM_018105.2:c.268-406A>T NP_060575.1:n.268-406A>T
NM_199003.1:c.72-406A>T NP_945354.1:n.72-406A>T
NM_018105.3:c.268-406A>T MANE Select NP_060575.1:n.268-406A>T
NM_199003.2:c.72-406A>T NP_945354.1:n.72-406A>T
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