Canonical Allele Identifier: CA382011040

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951254A>T , CM000673.2:g.86951254A>T GRCh38
NC_000011.9:g.86662296A>T , CM000673.1:g.86662296A>T GRCh37
NC_000011.8:g.86339944A>T NCBI36
NG_011752.1:g.9138T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1502T>A (FZD4) MANE Select ENSP00000434034.1:p.Leu501His
ENST00000528769.5:n.311A>T (PRSS23)
ENST00000531380.1:c.1502T>A (FZD4) ENSP00000434034.1:p.Leu501His
ENST00000531521.1:n.425A>T (PRSS23)
ENST00000532234.5:c.*247A>T (PRSS23) ENSP00000436676.1:n.*247A>T
ENST00000533902.2:c.245A>T (PRSS23) ENSP00000437268.1:p.Lys82Met
NM_012193.3:c.1502T>A (FZD4) NP_036325.2:p.Leu501His
NR_120591.1:n.919A>T (PRSS23)
NR_120592.1:n.668A>T (PRSS23)
NR_120591.2:n.617A>T (PRSS23)
NR_120592.2:n.366A>T (PRSS23)
NM_012193.4:c.1502T>A (FZD4) MANE Select NP_036325.2:p.Leu501His
NR_120591.3:n.617A>T (PRSS23)