Canonical Allele Identifier: CA382016398

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952314A>G , CM000673.2:g.86952314A>G GRCh38
NC_000011.9:g.86663356A>G , CM000673.1:g.86663356A>G GRCh37
NC_000011.8:g.86341004A>G NCBI36
NG_011752.1:g.8078T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.442T>C (FZD4) MANE Select ENSP00000434034.1:p.Phe148Leu
ENST00000531380.1:c.442T>C (FZD4) ENSP00000434034.1:p.Phe148Leu
ENST00000532234.5:c.*1307A>G (PRSS23) ENSP00000436676.1:n.*1307A>G
ENST00000533902.2:c.*1029A>G (PRSS23) ENSP00000437268.1:n.*1029A>G
NM_012193.3:c.442T>C (FZD4) NP_036325.2:p.Phe148Leu
NR_120591.1:n.1979A>G (PRSS23)
NR_120592.1:n.1728A>G (PRSS23)
NR_120591.2:n.1677A>G (PRSS23)
NR_120592.2:n.1426A>G (PRSS23)
NM_012193.4:c.442T>C (FZD4) MANE Select NP_036325.2:p.Phe148Leu
NR_120591.3:n.1677A>G (PRSS23)