Canonical Allele Identifier: CA382012374

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951526C>A , CM000673.2:g.86951526C>A GRCh38
NC_000011.9:g.86662568C>A , CM000673.1:g.86662568C>A GRCh37
NC_000011.8:g.86340216C>A NCBI36
NG_011752.1:g.8866G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1230G>T (FZD4) MANE Select ENSP00000434034.1:p.Leu410Phe
ENST00000531380.1:c.1230G>T (FZD4) ENSP00000434034.1:p.Leu410Phe
ENST00000531521.1:n.697C>A (PRSS23)
ENST00000532234.5:c.*519C>A (PRSS23) ENSP00000436676.1:n.*519C>A
ENST00000533902.2:c.*241C>A (PRSS23) ENSP00000437268.1:n.*241C>A
NM_012193.3:c.1230G>T (FZD4) NP_036325.2:p.Leu410Phe
NR_120591.1:n.1191C>A (PRSS23)
NR_120592.1:n.940C>A (PRSS23)
NR_120591.2:n.889C>A (PRSS23)
NR_120592.2:n.638C>A (PRSS23)
NM_012193.4:c.1230G>T (FZD4) MANE Select NP_036325.2:p.Leu410Phe
NR_120591.3:n.889C>A (PRSS23)