Canonical Allele Identifier: CA382011060

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951261T>G , CM000673.2:g.86951261T>G GRCh38
NC_000011.9:g.86662303T>G , CM000673.1:g.86662303T>G GRCh37
NC_000011.8:g.86339951T>G NCBI36
NG_011752.1:g.9131A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1495A>C (FZD4) MANE Select ENSP00000434034.1:p.Lys499Gln
ENST00000528769.5:n.318T>G (PRSS23)
ENST00000531380.1:c.1495A>C (FZD4) ENSP00000434034.1:p.Lys499Gln
ENST00000531521.1:n.432T>G (PRSS23)
ENST00000532234.5:c.*254T>G (PRSS23) ENSP00000436676.1:n.*254T>G
ENST00000533902.2:c.252T>G (PRSS23) ENSP00000437268.1:p.Phe84Leu
NM_012193.3:c.1495A>C (FZD4) NP_036325.2:p.Lys499Gln
NR_120591.1:n.926T>G (PRSS23)
NR_120592.1:n.675T>G (PRSS23)
NR_120591.2:n.624T>G (PRSS23)
NR_120592.2:n.373T>G (PRSS23)
NM_012193.4:c.1495A>C (FZD4) MANE Select NP_036325.2:p.Lys499Gln
NR_120591.3:n.624T>G (PRSS23)