Canonical Allele Identifier: CA2687126233
Gene: THAP1 HGNC NCBI

Linked Data

gnomAD v4: 8-42839116-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42839116C>T , CM000670.2:g.42839116C>T GRCh38
NC_000008.10:g.42694259C>T , CM000670.1:g.42694259C>T GRCh37
NC_000008.9:g.42813416C>T NCBI36
NG_011837.1:g.9216G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000254250.7:c.267+70G>A MANE Select ENSP00000254250.3:n.267+70G>A
ENST00000345117.2:c.72-780G>A ENSP00000344966.2:n.72-780G>A
ENST00000529779.1:c.267+70G>A ENSP00000433912.1:n.267+70G>A
NM_018105.2:c.267+70G>A NP_060575.1:n.267+70G>A
NM_199003.1:c.72-780G>A NP_945354.1:n.72-780G>A
NM_018105.3:c.267+70G>A MANE Select NP_060575.1:n.267+70G>A
NM_199003.2:c.72-780G>A NP_945354.1:n.72-780G>A
Search 100 bp 5'
Search 100 bp 3'