Canonical Allele Identifier: CA382011018

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951246A>G , CM000673.2:g.86951246A>G GRCh38
NC_000011.9:g.86662288A>G , CM000673.1:g.86662288A>G GRCh37
NC_000011.8:g.86339936A>G NCBI36
NG_011752.1:g.9146T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1510T>C (FZD4) MANE Select ENSP00000434034.1:p.Trp504Arg
ENST00000528769.5:n.303A>G (PRSS23)
ENST00000531380.1:c.1510T>C (FZD4) ENSP00000434034.1:p.Trp504Arg
ENST00000531521.1:n.417A>G (PRSS23)
ENST00000532234.5:c.*239A>G (PRSS23) ENSP00000436676.1:n.*239A>G
ENST00000533902.2:c.237A>G (PRSS23) ENSP00000437268.1:p.Pro79=
NM_012193.3:c.1510T>C (FZD4) NP_036325.2:p.Trp504Arg
NR_120591.1:n.911A>G (PRSS23)
NR_120592.1:n.660A>G (PRSS23)
NR_120591.2:n.609A>G (PRSS23)
NR_120592.2:n.358A>G (PRSS23)
NM_012193.4:c.1510T>C (FZD4) MANE Select NP_036325.2:p.Trp504Arg
NR_120591.3:n.609A>G (PRSS23)