Canonical Allele Identifier: CA382015060

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952106T>A , CM000673.2:g.86952106T>A GRCh38
NC_000011.9:g.86663148T>A , CM000673.1:g.86663148T>A GRCh37
NC_000011.8:g.86340796T>A NCBI36
NG_011752.1:g.8286A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.650A>T (FZD4) MANE Select ENSP00000434034.1:p.Glu217Val
ENST00000531380.1:c.650A>T (FZD4) ENSP00000434034.1:p.Glu217Val
ENST00000532234.5:c.*1099T>A (PRSS23) ENSP00000436676.1:n.*1099T>A
ENST00000533902.2:c.*821T>A (PRSS23) ENSP00000437268.1:n.*821T>A
NM_012193.3:c.650A>T (FZD4) NP_036325.2:p.Glu217Val
NR_120591.1:n.1771T>A (PRSS23)
NR_120592.1:n.1520T>A (PRSS23)
NR_120591.2:n.1469T>A (PRSS23)
NR_120592.2:n.1218T>A (PRSS23)
NM_012193.4:c.650A>T (FZD4) MANE Select NP_036325.2:p.Glu217Val
NR_120591.3:n.1469T>A (PRSS23)