Canonical Allele Identifier: CA382016968

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952388G>C , CM000673.2:g.86952388G>C GRCh38
NC_000011.9:g.86663430G>C , CM000673.1:g.86663430G>C GRCh37
NC_000011.8:g.86341078G>C NCBI36
NG_011752.1:g.8004C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.368C>G (FZD4) MANE Select ENSP00000434034.1:p.Ser123Ter
ENST00000531380.1:c.368C>G (FZD4) ENSP00000434034.1:p.Ser123Ter
ENST00000532234.5:c.*1381G>C (PRSS23) ENSP00000436676.1:n.*1381G>C
ENST00000533902.2:c.*1103G>C (PRSS23) ENSP00000437268.1:n.*1103G>C
NM_012193.3:c.368C>G (FZD4) NP_036325.2:p.Ser123Ter
NR_120591.1:n.2053G>C (PRSS23)
NR_120592.1:n.1802G>C (PRSS23)
NR_120591.2:n.1751G>C (PRSS23)
NR_120592.2:n.1500G>C (PRSS23)
NM_012193.4:c.368C>G (FZD4) MANE Select NP_036325.2:p.Ser123Ter
NR_120591.3:n.1751G>C (PRSS23)