Canonical Allele Identifier: CA382015823

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952235G>T , CM000673.2:g.86952235G>T GRCh38
NC_000011.9:g.86663277G>T , CM000673.1:g.86663277G>T GRCh37
NC_000011.8:g.86340925G>T NCBI36
NG_011752.1:g.8157C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.521C>A (FZD4) MANE Select ENSP00000434034.1:p.Pro174His
ENST00000531380.1:c.521C>A (FZD4) ENSP00000434034.1:p.Pro174His
ENST00000532234.5:c.*1228G>T (PRSS23) ENSP00000436676.1:n.*1228G>T
ENST00000533902.2:c.*950G>T (PRSS23) ENSP00000437268.1:n.*950G>T
NM_012193.3:c.521C>A (FZD4) NP_036325.2:p.Pro174His
NR_120591.1:n.1900G>T (PRSS23)
NR_120592.1:n.1649G>T (PRSS23)
NR_120591.2:n.1598G>T (PRSS23)
NR_120592.2:n.1347G>T (PRSS23)
NM_012193.4:c.521C>A (FZD4) MANE Select NP_036325.2:p.Pro174His
NR_120591.3:n.1598G>T (PRSS23)