Canonical Allele Identifier: CA382011008

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951242T>C , CM000673.2:g.86951242T>C GRCh38
NC_000011.9:g.86662284T>C , CM000673.1:g.86662284T>C GRCh37
NC_000011.8:g.86339932T>C NCBI36
NG_011752.1:g.9150A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1514A>G (FZD4) MANE Select ENSP00000434034.1:p.Gln505Arg
ENST00000528769.5:n.299T>C (PRSS23)
ENST00000531380.1:c.1514A>G (FZD4) ENSP00000434034.1:p.Gln505Arg
ENST00000531521.1:n.413T>C (PRSS23)
ENST00000532234.5:c.*235T>C (PRSS23) ENSP00000436676.1:n.*235T>C
ENST00000533902.2:c.233T>C (PRSS23) ENSP00000437268.1:p.Leu78Pro
NM_012193.3:c.1514A>G (FZD4) NP_036325.2:p.Gln505Arg
NR_120591.1:n.907T>C (PRSS23)
NR_120592.1:n.656T>C (PRSS23)
NR_120591.2:n.605T>C (PRSS23)
NR_120592.2:n.354T>C (PRSS23)
NM_012193.4:c.1514A>G (FZD4) MANE Select NP_036325.2:p.Gln505Arg
NR_120591.3:n.605T>C (PRSS23)