Canonical Allele Identifier: CA382015285

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952140A>G , CM000673.2:g.86952140A>G GRCh38
NC_000011.9:g.86663182A>G , CM000673.1:g.86663182A>G GRCh37
NC_000011.8:g.86340830A>G NCBI36
NG_011752.1:g.8252T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.616T>C (FZD4) MANE Select ENSP00000434034.1:p.Tyr206His
ENST00000531380.1:c.616T>C (FZD4) ENSP00000434034.1:p.Tyr206His
ENST00000532234.5:c.*1133A>G (PRSS23) ENSP00000436676.1:n.*1133A>G
ENST00000533902.2:c.*855A>G (PRSS23) ENSP00000437268.1:n.*855A>G
NM_012193.3:c.616T>C (FZD4) NP_036325.2:p.Tyr206His
NR_120591.1:n.1805A>G (PRSS23)
NR_120592.1:n.1554A>G (PRSS23)
NR_120591.2:n.1503A>G (PRSS23)
NR_120592.2:n.1252A>G (PRSS23)
NM_012193.4:c.616T>C (FZD4) MANE Select NP_036325.2:p.Tyr206His
NR_120591.3:n.1503A>G (PRSS23)