Canonical Allele Identifier: CA382011011

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951243G>T , CM000673.2:g.86951243G>T GRCh38
NC_000011.9:g.86662285G>T , CM000673.1:g.86662285G>T GRCh37
NC_000011.8:g.86339933G>T NCBI36
NG_011752.1:g.9149C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1513C>A (FZD4) MANE Select ENSP00000434034.1:p.Gln505Lys
ENST00000528769.5:n.300G>T (PRSS23)
ENST00000531380.1:c.1513C>A (FZD4) ENSP00000434034.1:p.Gln505Lys
ENST00000531521.1:n.414G>T (PRSS23)
ENST00000532234.5:c.*236G>T (PRSS23) ENSP00000436676.1:n.*236G>T
ENST00000533902.2:c.234G>T (PRSS23) ENSP00000437268.1:p.Leu78=
NM_012193.3:c.1513C>A (FZD4) NP_036325.2:p.Gln505Lys
NR_120591.1:n.908G>T (PRSS23)
NR_120592.1:n.657G>T (PRSS23)
NR_120591.2:n.606G>T (PRSS23)
NR_120592.2:n.355G>T (PRSS23)
NM_012193.4:c.1513C>A (FZD4) MANE Select NP_036325.2:p.Gln505Lys
NR_120591.3:n.606G>T (PRSS23)