Canonical Allele Identifier: CA382016854

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952368G>T , CM000673.2:g.86952368G>T GRCh38
NC_000011.9:g.86663410G>T , CM000673.1:g.86663410G>T GRCh37
NC_000011.8:g.86341058G>T NCBI36
NG_011752.1:g.8024C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.388C>A (FZD4) MANE Select ENSP00000434034.1:p.Pro130Thr
ENST00000531380.1:c.388C>A (FZD4) ENSP00000434034.1:p.Pro130Thr
ENST00000532234.5:c.*1361G>T (PRSS23) ENSP00000436676.1:n.*1361G>T
ENST00000533902.2:c.*1083G>T (PRSS23) ENSP00000437268.1:n.*1083G>T
NM_012193.3:c.388C>A (FZD4) NP_036325.2:p.Pro130Thr
NR_120591.1:n.2033G>T (PRSS23)
NR_120592.1:n.1782G>T (PRSS23)
NR_120591.2:n.1731G>T (PRSS23)
NR_120592.2:n.1480G>T (PRSS23)
NM_012193.4:c.388C>A (FZD4) MANE Select NP_036325.2:p.Pro130Thr
NR_120591.3:n.1731G>T (PRSS23)