Canonical Allele Identifier: CA2687126246
Gene: THAP1 HGNC NCBI

Linked Data

gnomAD v4: 8-42839157-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42839157G>A , CM000670.2:g.42839157G>A GRCh38
NC_000008.10:g.42694300G>A , CM000670.1:g.42694300G>A GRCh37
NC_000008.9:g.42813457G>A NCBI36
NG_011837.1:g.9175C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000254250.7:c.267+29C>T MANE Select ENSP00000254250.3:n.267+29C>T
ENST00000345117.2:c.72-821C>T ENSP00000344966.2:n.72-821C>T
ENST00000529779.1:c.267+29C>T ENSP00000433912.1:n.267+29C>T
NM_018105.2:c.267+29C>T NP_060575.1:n.267+29C>T
NM_199003.1:c.72-821C>T NP_945354.1:n.72-821C>T
NM_018105.3:c.267+29C>T MANE Select NP_060575.1:n.267+29C>T
NM_199003.2:c.72-821C>T NP_945354.1:n.72-821C>T