Canonical Allele Identifier: CA382016859

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952370T>G , CM000673.2:g.86952370T>G GRCh38
NC_000011.9:g.86663412T>G , CM000673.1:g.86663412T>G GRCh37
NC_000011.8:g.86341060T>G NCBI36
NG_011752.1:g.8022A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.386A>C (FZD4) MANE Select ENSP00000434034.1:p.Glu129Ala
ENST00000531380.1:c.386A>C (FZD4) ENSP00000434034.1:p.Glu129Ala
ENST00000532234.5:c.*1363T>G (PRSS23) ENSP00000436676.1:n.*1363T>G
ENST00000533902.2:c.*1085T>G (PRSS23) ENSP00000437268.1:n.*1085T>G
NM_012193.3:c.386A>C (FZD4) NP_036325.2:p.Glu129Ala
NR_120591.1:n.2035T>G (PRSS23)
NR_120592.1:n.1784T>G (PRSS23)
NR_120591.2:n.1733T>G (PRSS23)
NR_120592.2:n.1482T>G (PRSS23)
NM_012193.4:c.386A>C (FZD4) MANE Select NP_036325.2:p.Glu129Ala
NR_120591.3:n.1733T>G (PRSS23)