Canonical Allele Identifier: CA382014660

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952025T>A , CM000673.2:g.86952025T>A GRCh38
NC_000011.9:g.86663067T>A , CM000673.1:g.86663067T>A GRCh37
NC_000011.8:g.86340715T>A NCBI36
NG_011752.1:g.8367A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.731A>T (FZD4) MANE Select ENSP00000434034.1:p.Asp244Val
ENST00000531380.1:c.731A>T (FZD4) ENSP00000434034.1:p.Asp244Val
ENST00000532234.5:c.*1018T>A (PRSS23) ENSP00000436676.1:n.*1018T>A
ENST00000533902.2:c.*740T>A (PRSS23) ENSP00000437268.1:n.*740T>A
NM_012193.3:c.731A>T (FZD4) NP_036325.2:p.Asp244Val
NR_120591.1:n.1690T>A (PRSS23)
NR_120592.1:n.1439T>A (PRSS23)
NR_120591.2:n.1388T>A (PRSS23)
NR_120592.2:n.1137T>A (PRSS23)
NM_012193.4:c.731A>T (FZD4) MANE Select NP_036325.2:p.Asp244Val
NR_120591.3:n.1388T>A (PRSS23)