Canonical Allele Identifier: CA851934597
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1278135171
gnomAD v3: 8-42838830-G-A
gnomAD v4: 8-42838830-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838830G>A , CM000670.2:g.42838830G>A GRCh38
NC_000008.10:g.42693973G>A , CM000670.1:g.42693973G>A GRCh37
NC_000008.9:g.42813130G>A NCBI36
NG_011837.1:g.9502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+356C>T MANE Select ENSP00000254250.3:n.267+356C>T
ENST00000345117.2:c.72-494C>T ENSP00000344966.2:n.72-494C>T
ENST00000529779.1:c.267+356C>T ENSP00000433912.1:n.267+356C>T
NM_018105.2:c.267+356C>T NP_060575.1:n.267+356C>T
NM_199003.1:c.72-494C>T NP_945354.1:n.72-494C>T
NM_018105.3:c.267+356C>T MANE Select NP_060575.1:n.267+356C>T
NM_199003.2:c.72-494C>T NP_945354.1:n.72-494C>T