Canonical Allele Identifier: CA382014950

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952089T>A , CM000673.2:g.86952089T>A GRCh38
NC_000011.9:g.86663131T>A , CM000673.1:g.86663131T>A GRCh37
NC_000011.8:g.86340779T>A NCBI36
NG_011752.1:g.8303A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.667A>T (FZD4) MANE Select ENSP00000434034.1:p.Met223Leu
ENST00000531380.1:c.667A>T (FZD4) ENSP00000434034.1:p.Met223Leu
ENST00000532234.5:c.*1082T>A (PRSS23) ENSP00000436676.1:n.*1082T>A
ENST00000533902.2:c.*804T>A (PRSS23) ENSP00000437268.1:n.*804T>A
NM_012193.3:c.667A>T (FZD4) NP_036325.2:p.Met223Leu
NR_120591.1:n.1754T>A (PRSS23)
NR_120592.1:n.1503T>A (PRSS23)
NR_120591.2:n.1452T>A (PRSS23)
NR_120592.2:n.1201T>A (PRSS23)
NM_012193.4:c.667A>T (FZD4) MANE Select NP_036325.2:p.Met223Leu
NR_120591.3:n.1452T>A (PRSS23)