Canonical Allele Identifier: CA382015238

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952133G>T , CM000673.2:g.86952133G>T GRCh38
NC_000011.9:g.86663175G>T , CM000673.1:g.86663175G>T GRCh37
NC_000011.8:g.86340823G>T NCBI36
NG_011752.1:g.8259C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.623C>A (FZD4) MANE Select ENSP00000434034.1:p.Ala208Asp
ENST00000531380.1:c.623C>A (FZD4) ENSP00000434034.1:p.Ala208Asp
ENST00000532234.5:c.*1126G>T (PRSS23) ENSP00000436676.1:n.*1126G>T
ENST00000533902.2:c.*848G>T (PRSS23) ENSP00000437268.1:n.*848G>T
NM_012193.3:c.623C>A (FZD4) NP_036325.2:p.Ala208Asp
NR_120591.1:n.1798G>T (PRSS23)
NR_120592.1:n.1547G>T (PRSS23)
NR_120591.2:n.1496G>T (PRSS23)
NR_120592.2:n.1245G>T (PRSS23)
NM_012193.4:c.623C>A (FZD4) MANE Select NP_036325.2:p.Ala208Asp
NR_120591.3:n.1496G>T (PRSS23)