Canonical Allele Identifier: CA382011036

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951253A>G , CM000673.2:g.86951253A>G GRCh38
NC_000011.9:g.86662295A>G , CM000673.1:g.86662295A>G GRCh37
NC_000011.8:g.86339943A>G NCBI36
NG_011752.1:g.9139T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1503T>C (FZD4) MANE Select ENSP00000434034.1:p.Leu501=
ENST00000528769.5:n.310A>G (PRSS23)
ENST00000531380.1:c.1503T>C (FZD4) ENSP00000434034.1:p.Leu501=
ENST00000531521.1:n.424A>G (PRSS23)
ENST00000532234.5:c.*246A>G (PRSS23) ENSP00000436676.1:n.*246A>G
ENST00000533902.2:c.244A>G (PRSS23) ENSP00000437268.1:p.Lys82Glu
NM_012193.3:c.1503T>C (FZD4) NP_036325.2:p.Leu501=
NR_120591.1:n.918A>G (PRSS23)
NR_120592.1:n.667A>G (PRSS23)
NR_120591.2:n.616A>G (PRSS23)
NR_120592.2:n.365A>G (PRSS23)
NM_012193.4:c.1503T>C (FZD4) MANE Select NP_036325.2:p.Leu501=
NR_120591.3:n.616A>G (PRSS23)