Canonical Allele Identifier: CA176034548
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs540417719
gnomAD v2: 8-42694060-C-T
gnomAD v3: 8-42838917-C-T
gnomAD v4: 8-42838917-C-T
MyVariant Identifiers: chr8:g.42694060C>T (hg19) chr8:g.42694060_42694063delinsTTGA (hg19) chr8:g.42838917C>T (hg38) chr8:g.42838917_42838920delinsTTGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838917C>T , CM000670.2:g.42838917C>T GRCh38
NC_000008.10:g.42694060C>T , CM000670.1:g.42694060C>T GRCh37
NC_000008.9:g.42813217C>T NCBI36
NG_011837.1:g.9415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+269G>A MANE Select ENSP00000254250.3:n.267+269G>A
ENST00000345117.2:c.72-581G>A ENSP00000344966.2:n.72-581G>A
ENST00000529779.1:c.267+269G>A ENSP00000433912.1:n.267+269G>A
NM_018105.2:c.267+269G>A NP_060575.1:n.267+269G>A
NM_199003.1:c.72-581G>A NP_945354.1:n.72-581G>A
NM_018105.3:c.267+269G>A MANE Select NP_060575.1:n.267+269G>A
NM_199003.2:c.72-581G>A NP_945354.1:n.72-581G>A
Search 100 bp 5'
Search 100 bp 3'