Canonical Allele Identifier: CA382014717

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952035A>C , CM000673.2:g.86952035A>C GRCh38
NC_000011.9:g.86663077A>C , CM000673.1:g.86663077A>C GRCh37
NC_000011.8:g.86340725A>C NCBI36
NG_011752.1:g.8357T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.721T>G (FZD4) MANE Select ENSP00000434034.1:p.Phe241Val
ENST00000531380.1:c.721T>G (FZD4) ENSP00000434034.1:p.Phe241Val
ENST00000532234.5:c.*1028A>C (PRSS23) ENSP00000436676.1:n.*1028A>C
ENST00000533902.2:c.*750A>C (PRSS23) ENSP00000437268.1:n.*750A>C
NM_012193.3:c.721T>G (FZD4) NP_036325.2:p.Phe241Val
NR_120591.1:n.1700A>C (PRSS23)
NR_120592.1:n.1449A>C (PRSS23)
NR_120591.2:n.1398A>C (PRSS23)
NR_120592.2:n.1147A>C (PRSS23)
NM_012193.4:c.721T>G (FZD4) MANE Select NP_036325.2:p.Phe241Val
NR_120591.3:n.1398A>C (PRSS23)