Canonical Allele Identifier: CA382011059

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1495A>G (FZD4) MANE Select ENSP00000434034.1:p.Lys499Glu
ENST00000528769.5:n.318T>C (PRSS23)
ENST00000531380.1:c.1495A>G (FZD4) ENSP00000434034.1:p.Lys499Glu
ENST00000531521.1:n.432T>C (PRSS23)
ENST00000532234.5:c.*254T>C (PRSS23) ENSP00000436676.1:n.*254T>C
ENST00000533902.2:c.252T>C (PRSS23) ENSP00000437268.1:p.Phe84=
NM_012193.3:c.1495A>G (FZD4) NP_036325.2:p.Lys499Glu
NR_120591.1:n.926T>C (PRSS23)
NR_120592.1:n.675T>C (PRSS23)
NR_120591.2:n.624T>C (PRSS23)
NR_120592.2:n.373T>C (PRSS23)
NM_012193.4:c.1495A>G (FZD4) MANE Select NP_036325.2:p.Lys499Glu
NR_120591.3:n.624T>C (PRSS23)