Canonical Allele Identifier: CA382011062

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951262G>C , CM000673.2:g.86951262G>C GRCh38
NC_000011.9:g.86662304G>C , CM000673.1:g.86662304G>C GRCh37
NC_000011.8:g.86339952G>C NCBI36
NG_011752.1:g.9130C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1494C>G (FZD4) MANE Select ENSP00000434034.1:p.Ala498=
ENST00000528769.5:n.319G>C (PRSS23)
ENST00000531380.1:c.1494C>G (FZD4) ENSP00000434034.1:p.Ala498=
ENST00000531521.1:n.433G>C (PRSS23)
ENST00000532234.5:c.*255G>C (PRSS23) ENSP00000436676.1:n.*255G>C
ENST00000533902.2:c.253G>C (PRSS23) ENSP00000437268.1:p.Gly85Arg
NM_012193.3:c.1494C>G (FZD4) NP_036325.2:p.Ala498=
NR_120591.1:n.927G>C (PRSS23)
NR_120592.1:n.676G>C (PRSS23)
NR_120591.2:n.625G>C (PRSS23)
NR_120592.2:n.374G>C (PRSS23)
NM_012193.4:c.1494C>G (FZD4) MANE Select NP_036325.2:p.Ala498=
NR_120591.3:n.625G>C (PRSS23)