Canonical Allele Identifier: CA343105
Gene: PRX HGNC NCBI

Linked Data

ClinVar Variation Id: 38453
ClinVar RCV Id: RCV000032003 RCV000790179
dbSNP Id: rs281865062
MyVariant Identifiers: chr19:g.40902161del (hg19) chr19:g.40396254del (hg38)
PubMed: PMID:20301641
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40396255del , CM000681.2:g.40396255del GRCh38
NC_000019.9:g.40902162del , CM000681.1:g.40902162del GRCh37
NC_000019.8:g.45594002del NCBI36
NG_007979.1:g.22111del , LRG_265:g.22111del

Transcript Alleles

HGVS Amino-acid change
ENST00000324001.8:c.2098del MANE Select ENSP00000326018.6:p.Ala700ProfsTer18
ENST00000673881.1:c.1681del ENSP00000501070.1:p.Ala561ProfsTer18
ENST00000674005.2:c.2383del ENSP00000501261.1:p.Ala795ProfsTer18
ENST00000674773.1:c.1681del ENSP00000502579.1:p.Ala561ProfsTer18
ENST00000675517.1:c.1973del
ENST00000676076.1:c.1959del
ENST00000676260.1:c.2060del
ENST00000676316.1:c.1985del
ENST00000291825.11:c.*2303del ENSP00000291825.6:n.*2303del
ENST00000324001.7:c.2098del ENSP00000326018.6:p.Ala700ProfsTer18
NM_020956.2:c.*2303del , LRG_265t1:c.*2303del NP_066007.1:n.*2303del
NM_181882.2:c.2098del , LRG_265t2:c.2098del NP_870998.2:p.Ala700ProfsTer18
XM_011527171.1:c.2098del XP_011525473.1:p.Ala700ProfsTer18
XM_011527171.2:c.2098del XP_011525473.1:p.Ala700ProfsTer18
XM_017027046.1:c.1996del XP_016882535.1:p.Ala666ProfsTer18
XM_017027047.1:c.1996del XP_016882536.1:p.Ala666ProfsTer18
NM_181882.3:c.2098del MANE Select NP_870998.2:p.Ala700ProfsTer18
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