Canonical Allele Identifier: CA382016411

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952315T>A , CM000673.2:g.86952315T>A GRCh38
NC_000011.9:g.86663357T>A , CM000673.1:g.86663357T>A GRCh37
NC_000011.8:g.86341005T>A NCBI36
NG_011752.1:g.8077A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.441A>T (FZD4) MANE Select ENSP00000434034.1:p.Lys147Asn
ENST00000531380.1:c.441A>T (FZD4) ENSP00000434034.1:p.Lys147Asn
ENST00000532234.5:c.*1308T>A (PRSS23) ENSP00000436676.1:n.*1308T>A
ENST00000533902.2:c.*1030T>A (PRSS23) ENSP00000437268.1:n.*1030T>A
NM_012193.3:c.441A>T (FZD4) NP_036325.2:p.Lys147Asn
NR_120591.1:n.1980T>A (PRSS23)
NR_120592.1:n.1729T>A (PRSS23)
NR_120591.2:n.1678T>A (PRSS23)
NR_120592.2:n.1427T>A (PRSS23)
NM_012193.4:c.441A>T (FZD4) MANE Select NP_036325.2:p.Lys147Asn
NR_120591.3:n.1678T>A (PRSS23)