Canonical Allele Identifier: CA382014858

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952067C>A , CM000673.2:g.86952067C>A GRCh38
NC_000011.9:g.86663109C>A , CM000673.1:g.86663109C>A GRCh37
NC_000011.8:g.86340757C>A NCBI36
NG_011752.1:g.8325G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.689G>T (FZD4) MANE Select ENSP00000434034.1:p.Cys230Phe
ENST00000531380.1:c.689G>T (FZD4) ENSP00000434034.1:p.Cys230Phe
ENST00000532234.5:c.*1060C>A (PRSS23) ENSP00000436676.1:n.*1060C>A
ENST00000533902.2:c.*782C>A (PRSS23) ENSP00000437268.1:n.*782C>A
NM_012193.3:c.689G>T (FZD4) NP_036325.2:p.Cys230Phe
NR_120591.1:n.1732C>A (PRSS23)
NR_120592.1:n.1481C>A (PRSS23)
NR_120591.2:n.1430C>A (PRSS23)
NR_120592.2:n.1179C>A (PRSS23)
NM_012193.4:c.689G>T (FZD4) MANE Select NP_036325.2:p.Cys230Phe
NR_120591.3:n.1430C>A (PRSS23)