Canonical Allele Identifier: CA382011271

Linked Data

dbSNP Id: rs1342206795

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951324T>C , CM000673.2:g.86951324T>C GRCh38
NC_000011.9:g.86662366T>C , CM000673.1:g.86662366T>C GRCh37
NC_000011.8:g.86340014T>C NCBI36
NG_011752.1:g.9068A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1432A>G (FZD4) MANE Select ENSP00000434034.1:p.Met478Val
ENST00000528769.5:n.381T>C (PRSS23)
ENST00000531380.1:c.1432A>G (FZD4) ENSP00000434034.1:p.Met478Val
ENST00000531521.1:n.495T>C (PRSS23)
ENST00000532234.5:c.*317T>C (PRSS23) ENSP00000436676.1:n.*317T>C
ENST00000533902.2:c.*39T>C (PRSS23) ENSP00000437268.1:n.*39T>C
NM_012193.3:c.1432A>G (FZD4) NP_036325.2:p.Met478Val
NR_120591.1:n.989T>C (PRSS23)
NR_120592.1:n.738T>C (PRSS23)
NR_120591.2:n.687T>C (PRSS23)
NR_120592.2:n.436T>C (PRSS23)
NM_012193.4:c.1432A>G (FZD4) MANE Select NP_036325.2:p.Met478Val
NR_120591.3:n.687T>C (PRSS23)