Canonical Allele Identifier: CA382011052

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951259T>A , CM000673.2:g.86951259T>A GRCh38
NC_000011.9:g.86662301T>A , CM000673.1:g.86662301T>A GRCh37
NC_000011.8:g.86339949T>A NCBI36
NG_011752.1:g.9133A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1497A>T (FZD4) MANE Select ENSP00000434034.1:p.Lys499Asn
ENST00000528769.5:n.316T>A (PRSS23)
ENST00000531380.1:c.1497A>T (FZD4) ENSP00000434034.1:p.Lys499Asn
ENST00000531521.1:n.430T>A (PRSS23)
ENST00000532234.5:c.*252T>A (PRSS23) ENSP00000436676.1:n.*252T>A
ENST00000533902.2:c.250T>A (PRSS23) ENSP00000437268.1:p.Phe84Ile
NM_012193.3:c.1497A>T (FZD4) NP_036325.2:p.Lys499Asn
NR_120591.1:n.924T>A (PRSS23)
NR_120592.1:n.673T>A (PRSS23)
NR_120591.2:n.622T>A (PRSS23)
NR_120592.2:n.371T>A (PRSS23)
NM_012193.4:c.1497A>T (FZD4) MANE Select NP_036325.2:p.Lys499Asn
NR_120591.3:n.622T>A (PRSS23)