Canonical Allele Identifier: CA382011583

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951402T>G , CM000673.2:g.86951402T>G GRCh38
NC_000011.9:g.86662444T>G , CM000673.1:g.86662444T>G GRCh37
NC_000011.8:g.86340092T>G NCBI36
NG_011752.1:g.8990A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1354A>C (FZD4) MANE Select ENSP00000434034.1:p.Ile452Leu
ENST00000528769.5:n.459T>G (PRSS23)
ENST00000531380.1:c.1354A>C (FZD4) ENSP00000434034.1:p.Ile452Leu
ENST00000531521.1:n.573T>G (PRSS23)
ENST00000532234.5:c.*395T>G (PRSS23) ENSP00000436676.1:n.*395T>G
ENST00000533902.2:c.*117T>G (PRSS23) ENSP00000437268.1:n.*117T>G
NM_012193.3:c.1354A>C (FZD4) NP_036325.2:p.Ile452Leu
NR_120591.1:n.1067T>G (PRSS23)
NR_120592.1:n.816T>G (PRSS23)
NR_120591.2:n.765T>G (PRSS23)
NR_120592.2:n.514T>G (PRSS23)
NM_012193.4:c.1354A>C (FZD4) MANE Select NP_036325.2:p.Ile452Leu
NR_120591.3:n.765T>G (PRSS23)