Canonical Allele Identifier: CA581928986
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1336645481
gnomAD v2: 8-42694291-A-G
gnomAD v3: 8-42839148-A-G
gnomAD v4: 8-42839148-A-G
MyVariant Identifiers: chr8:g.42694291A>G (hg19) chr8:g.42839148A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42839148A>G , CM000670.2:g.42839148A>G GRCh38
NC_000008.10:g.42694291A>G , CM000670.1:g.42694291A>G GRCh37
NC_000008.9:g.42813448A>G NCBI36
NG_011837.1:g.9184T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000254250.7:c.267+38T>C MANE Select ENSP00000254250.3:n.267+38T>C
ENST00000345117.2:c.72-812T>C ENSP00000344966.2:n.72-812T>C
ENST00000529779.1:c.267+38T>C ENSP00000433912.1:n.267+38T>C
NM_018105.2:c.267+38T>C NP_060575.1:n.267+38T>C
NM_199003.1:c.72-812T>C NP_945354.1:n.72-812T>C
NM_018105.3:c.267+38T>C MANE Select NP_060575.1:n.267+38T>C
NM_199003.2:c.72-812T>C NP_945354.1:n.72-812T>C
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