Canonical Allele Identifier: CA851934664

Gene: THAP1

Linked Data

• dbSNP Id: rs570414218
• gnomAD v3: 8-42838953-T-G
• gnomAD v4: 8-42838953-T-G
• MyVariant Identifiers: chr8:g.42694096T>G (hg19) ; chr8:g.42838953T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42838953T>G , CM000670.2:g.42838953T>G	GRCh38
NC_000008.10:g.42694096T>G , CM000670.1:g.42694096T>G	GRCh37
NC_000008.9:g.42813253T>G	NCBI36
NG_011837.1:g.9379A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254250.7:c.267+233A>C MANE Select	ENSP00000254250.3:n.267+233A>C
ENST00000345117.2:c.72-617A>C	ENSP00000344966.2:n.72-617A>C
ENST00000529779.1:c.267+233A>C	ENSP00000433912.1:n.267+233A>C
NM_018105.2:c.267+233A>C	NP_060575.1:n.267+233A>C
NM_199003.1:c.72-617A>C	NP_945354.1:n.72-617A>C
NM_018105.3:c.267+233A>C MANE Select	NP_060575.1:n.267+233A>C
NM_199003.2:c.72-617A>C	NP_945354.1:n.72-617A>C