Canonical Allele Identifier: CA382010995

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951237A>G , CM000673.2:g.86951237A>G GRCh38
NC_000011.9:g.86662279A>G , CM000673.1:g.86662279A>G GRCh37
NC_000011.8:g.86339927A>G NCBI36
NG_011752.1:g.9155T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1519T>C (FZD4) MANE Select ENSP00000434034.1:p.Cys507Arg
ENST00000528769.5:n.294A>G (PRSS23)
ENST00000531380.1:c.1519T>C (FZD4) ENSP00000434034.1:p.Cys507Arg
ENST00000531521.1:n.408A>G (PRSS23)
ENST00000532234.5:c.*230A>G (PRSS23) ENSP00000436676.1:n.*230A>G
ENST00000533902.2:c.228A>G (PRSS23) ENSP00000437268.1:p.Thr76=
NM_012193.3:c.1519T>C (FZD4) NP_036325.2:p.Cys507Arg
NR_120591.1:n.902A>G (PRSS23)
NR_120592.1:n.651A>G (PRSS23)
NR_120591.2:n.600A>G (PRSS23)
NR_120592.2:n.349A>G (PRSS23)
NM_012193.4:c.1519T>C (FZD4) MANE Select NP_036325.2:p.Cys507Arg
NR_120591.3:n.600A>G (PRSS23)