Canonical Allele Identifier: CA382011618

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951410G>C , CM000673.2:g.86951410G>C GRCh38
NC_000011.9:g.86662452G>C , CM000673.1:g.86662452G>C GRCh37
NC_000011.8:g.86340100G>C NCBI36
NG_011752.1:g.8982C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1346C>G (FZD4) MANE Select ENSP00000434034.1:p.Thr449Arg
ENST00000531380.1:c.1346C>G (FZD4) ENSP00000434034.1:p.Thr449Arg
ENST00000531521.1:n.581G>C (PRSS23)
ENST00000532234.5:c.*403G>C (PRSS23) ENSP00000436676.1:n.*403G>C
ENST00000533902.2:c.*125G>C (PRSS23) ENSP00000437268.1:n.*125G>C
NM_012193.3:c.1346C>G (FZD4) NP_036325.2:p.Thr449Arg
NR_120591.1:n.1075G>C (PRSS23)
NR_120592.1:n.824G>C (PRSS23)
NR_120591.2:n.773G>C (PRSS23)
NR_120592.2:n.522G>C (PRSS23)
NM_012193.4:c.1346C>G (FZD4) MANE Select NP_036325.2:p.Thr449Arg
NR_120591.3:n.773G>C (PRSS23)