Canonical Allele Identifier: CA382014690

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952029T>C , CM000673.2:g.86952029T>C GRCh38
NC_000011.9:g.86663071T>C , CM000673.1:g.86663071T>C GRCh37
NC_000011.8:g.86340719T>C NCBI36
NG_011752.1:g.8363A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.727A>G (FZD4) MANE Select ENSP00000434034.1:p.Ile243Val
ENST00000531380.1:c.727A>G (FZD4) ENSP00000434034.1:p.Ile243Val
ENST00000532234.5:c.*1022T>C (PRSS23) ENSP00000436676.1:n.*1022T>C
ENST00000533902.2:c.*744T>C (PRSS23) ENSP00000437268.1:n.*744T>C
NM_012193.3:c.727A>G (FZD4) NP_036325.2:p.Ile243Val
NR_120591.1:n.1694T>C (PRSS23)
NR_120592.1:n.1443T>C (PRSS23)
NR_120591.2:n.1392T>C (PRSS23)
NR_120592.2:n.1141T>C (PRSS23)
NM_012193.4:c.727A>G (FZD4) MANE Select NP_036325.2:p.Ile243Val
NR_120591.3:n.1392T>C (PRSS23)