Canonical Allele Identifier: CA382016418

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952315T>G , CM000673.2:g.86952315T>G GRCh38
NC_000011.9:g.86663357T>G , CM000673.1:g.86663357T>G GRCh37
NC_000011.8:g.86341005T>G NCBI36
NG_011752.1:g.8077A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.441A>C (FZD4) MANE Select ENSP00000434034.1:p.Lys147Asn
ENST00000531380.1:c.441A>C (FZD4) ENSP00000434034.1:p.Lys147Asn
ENST00000532234.5:c.*1308T>G (PRSS23) ENSP00000436676.1:n.*1308T>G
ENST00000533902.2:c.*1030T>G (PRSS23) ENSP00000437268.1:n.*1030T>G
NM_012193.3:c.441A>C (FZD4) NP_036325.2:p.Lys147Asn
NR_120591.1:n.1980T>G (PRSS23)
NR_120592.1:n.1729T>G (PRSS23)
NR_120591.2:n.1678T>G (PRSS23)
NR_120592.2:n.1427T>G (PRSS23)
NM_012193.4:c.441A>C (FZD4) MANE Select NP_036325.2:p.Lys147Asn
NR_120591.3:n.1678T>G (PRSS23)