Canonical Allele Identifier: CA382014943

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952087C>G , CM000673.2:g.86952087C>G GRCh38
NC_000011.9:g.86663129C>G , CM000673.1:g.86663129C>G GRCh37
NC_000011.8:g.86340777C>G NCBI36
NG_011752.1:g.8305G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.669G>C (FZD4) MANE Select ENSP00000434034.1:p.Met223Ile
ENST00000531380.1:c.669G>C (FZD4) ENSP00000434034.1:p.Met223Ile
ENST00000532234.5:c.*1080C>G (PRSS23) ENSP00000436676.1:n.*1080C>G
ENST00000533902.2:c.*802C>G (PRSS23) ENSP00000437268.1:n.*802C>G
NM_012193.3:c.669G>C (FZD4) NP_036325.2:p.Met223Ile
NR_120591.1:n.1752C>G (PRSS23)
NR_120592.1:n.1501C>G (PRSS23)
NR_120591.2:n.1450C>G (PRSS23)
NR_120592.2:n.1199C>G (PRSS23)
NM_012193.4:c.669G>C (FZD4) MANE Select NP_036325.2:p.Met223Ile
NR_120591.3:n.1450C>G (PRSS23)