Canonical Allele Identifier: CA382013773

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951806G>A , CM000673.2:g.86951806G>A GRCh38
NC_000011.9:g.86662848G>A , CM000673.1:g.86662848G>A GRCh37
NC_000011.8:g.86340496G>A NCBI36
NG_011752.1:g.8586C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.950C>T (FZD4) MANE Select ENSP00000434034.1:p.Ser317Phe
ENST00000531380.1:c.950C>T (FZD4) ENSP00000434034.1:p.Ser317Phe
ENST00000532234.5:c.*799G>A (PRSS23) ENSP00000436676.1:n.*799G>A
ENST00000533902.2:c.*521G>A (PRSS23) ENSP00000437268.1:n.*521G>A
NM_012193.3:c.950C>T (FZD4) NP_036325.2:p.Ser317Phe
NR_120591.1:n.1471G>A (PRSS23)
NR_120592.1:n.1220G>A (PRSS23)
NR_120591.2:n.1169G>A (PRSS23)
NR_120592.2:n.918G>A (PRSS23)
NM_012193.4:c.950C>T (FZD4) MANE Select NP_036325.2:p.Ser317Phe
NR_120591.3:n.1169G>A (PRSS23)