Canonical Allele Identifier: CA176034489
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs911221675
gnomAD v2: 8-42693931-A-T
gnomAD v3: 8-42838788-A-T
gnomAD v4: 8-42838788-A-T
MyVariant Identifiers: chr8:g.42693931A>T (hg19) chr8:g.42838788A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838788A>T , CM000670.2:g.42838788A>T GRCh38
NC_000008.10:g.42693931A>T , CM000670.1:g.42693931A>T GRCh37
NC_000008.9:g.42813088A>T NCBI36
NG_011837.1:g.9544T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+398T>A MANE Select ENSP00000254250.3:n.267+398T>A
ENST00000345117.2:c.72-452T>A ENSP00000344966.2:n.72-452T>A
ENST00000529779.1:c.267+398T>A ENSP00000433912.1:n.267+398T>A
NM_018105.2:c.267+398T>A NP_060575.1:n.267+398T>A
NM_199003.1:c.72-452T>A NP_945354.1:n.72-452T>A
NM_018105.3:c.267+398T>A MANE Select NP_060575.1:n.267+398T>A
NM_199003.2:c.72-452T>A NP_945354.1:n.72-452T>A
Search 100 bp 5'
Search 100 bp 3'