Canonical Allele Identifier: CA382010963

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951224A>C , CM000673.2:g.86951224A>C GRCh38
NC_000011.9:g.86662266A>C , CM000673.1:g.86662266A>C GRCh37
NC_000011.8:g.86339914A>C NCBI36
NG_011752.1:g.9168T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1532T>G (FZD4) MANE Select ENSP00000434034.1:p.Leu511Trp
ENST00000528769.5:n.281A>C (PRSS23)
ENST00000531380.1:c.1532T>G (FZD4) ENSP00000434034.1:p.Leu511Trp
ENST00000531521.1:n.395A>C (PRSS23)
ENST00000532234.5:c.*217A>C (PRSS23) ENSP00000436676.1:n.*217A>C
ENST00000533902.2:c.215A>C (PRSS23) ENSP00000437268.1:p.Gln72Pro
NM_012193.3:c.1532T>G (FZD4) NP_036325.2:p.Leu511Trp
NR_120591.1:n.889A>C (PRSS23)
NR_120592.1:n.638A>C (PRSS23)
NR_120591.2:n.587A>C (PRSS23)
NR_120592.2:n.336A>C (PRSS23)
NM_012193.4:c.1532T>G (FZD4) MANE Select NP_036325.2:p.Leu511Trp
NR_120591.3:n.587A>C (PRSS23)