Canonical Allele Identifier: CA382011147

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951290A>G , CM000673.2:g.86951290A>G GRCh38
NC_000011.9:g.86662332A>G , CM000673.1:g.86662332A>G GRCh37
NC_000011.8:g.86339980A>G NCBI36
NG_011752.1:g.9102T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1466T>C (FZD4) MANE Select ENSP00000434034.1:p.Ile489Thr
ENST00000528769.5:n.347A>G (PRSS23)
ENST00000531380.1:c.1466T>C (FZD4) ENSP00000434034.1:p.Ile489Thr
ENST00000531521.1:n.461A>G (PRSS23)
ENST00000532234.5:c.*283A>G (PRSS23) ENSP00000436676.1:n.*283A>G
ENST00000533902.2:c.*5A>G (PRSS23) ENSP00000437268.1:n.*5A>G
NM_012193.3:c.1466T>C (FZD4) NP_036325.2:p.Ile489Thr
NR_120591.1:n.955A>G (PRSS23)
NR_120592.1:n.704A>G (PRSS23)
NR_120591.2:n.653A>G (PRSS23)
NR_120592.2:n.402A>G (PRSS23)
NM_012193.4:c.1466T>C (FZD4) MANE Select NP_036325.2:p.Ile489Thr
NR_120591.3:n.653A>G (PRSS23)