Canonical Allele Identifier: CA382011103

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951277C>A , CM000673.2:g.86951277C>A GRCh38
NC_000011.9:g.86662319C>A , CM000673.1:g.86662319C>A GRCh37
NC_000011.8:g.86339967C>A NCBI36
NG_011752.1:g.9115G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1479G>T (FZD4) MANE Select ENSP00000434034.1:p.Met493Ile
ENST00000528769.5:n.334C>A (PRSS23)
ENST00000531380.1:c.1479G>T (FZD4) ENSP00000434034.1:p.Met493Ile
ENST00000531521.1:n.448C>A (PRSS23)
ENST00000532234.5:c.*270C>A (PRSS23) ENSP00000436676.1:n.*270C>A
ENST00000533902.2:c.268C>A (PRSS23) ENSP00000437268.1:p.His90Asn
NM_012193.3:c.1479G>T (FZD4) NP_036325.2:p.Met493Ile
NR_120591.1:n.942C>A (PRSS23)
NR_120592.1:n.691C>A (PRSS23)
NR_120591.2:n.640C>A (PRSS23)
NR_120592.2:n.389C>A (PRSS23)
NM_012193.4:c.1479G>T (FZD4) MANE Select NP_036325.2:p.Met493Ile
NR_120591.3:n.640C>A (PRSS23)