Canonical Allele Identifier: CA1113244321

Gene: THAP1

Linked Data

• dbSNP Id: rs1802663136
• gnomAD v3: 8-42838789-G-A
• gnomAD v4: 8-42838789-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42838789G>A , CM000670.2:g.42838789G>A	GRCh38
NC_000008.10:g.42693932G>A , CM000670.1:g.42693932G>A	GRCh37
NC_000008.9:g.42813089G>A	NCBI36
NG_011837.1:g.9543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.267+397C>T MANE Select	ENSP00000254250.3:n.267+397C>T
ENST00000345117.2:c.72-453C>T	ENSP00000344966.2:n.72-453C>T
ENST00000529779.1:c.267+397C>T	ENSP00000433912.1:n.267+397C>T
NM_018105.2:c.267+397C>T	NP_060575.1:n.267+397C>T
NM_199003.1:c.72-453C>T	NP_945354.1:n.72-453C>T
NM_018105.3:c.267+397C>T MANE Select	NP_060575.1:n.267+397C>T
NM_199003.2:c.72-453C>T	NP_945354.1:n.72-453C>T