Canonical Allele Identifier: CA382016554

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952332T>A , CM000673.2:g.86952332T>A GRCh38
NC_000011.9:g.86663374T>A , CM000673.1:g.86663374T>A GRCh37
NC_000011.8:g.86341022T>A NCBI36
NG_011752.1:g.8060A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.424A>T (FZD4) MANE Select ENSP00000434034.1:p.Ser142Cys
ENST00000531380.1:c.424A>T (FZD4) ENSP00000434034.1:p.Ser142Cys
ENST00000532234.5:c.*1325T>A (PRSS23) ENSP00000436676.1:n.*1325T>A
ENST00000533902.2:c.*1047T>A (PRSS23) ENSP00000437268.1:n.*1047T>A
NM_012193.3:c.424A>T (FZD4) NP_036325.2:p.Ser142Cys
NR_120591.1:n.1997T>A (PRSS23)
NR_120592.1:n.1746T>A (PRSS23)
NR_120591.2:n.1695T>A (PRSS23)
NR_120592.2:n.1444T>A (PRSS23)
NM_012193.4:c.424A>T (FZD4) MANE Select NP_036325.2:p.Ser142Cys
NR_120591.3:n.1695T>A (PRSS23)