Canonical Allele Identifier: CA382014926

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952083C>G , CM000673.2:g.86952083C>G GRCh38
NC_000011.9:g.86663125C>G , CM000673.1:g.86663125C>G GRCh37
NC_000011.8:g.86340773C>G NCBI36
NG_011752.1:g.8309G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.673G>C (FZD4) MANE Select ENSP00000434034.1:p.Val225Leu
ENST00000531380.1:c.673G>C (FZD4) ENSP00000434034.1:p.Val225Leu
ENST00000532234.5:c.*1076C>G (PRSS23) ENSP00000436676.1:n.*1076C>G
ENST00000533902.2:c.*798C>G (PRSS23) ENSP00000437268.1:n.*798C>G
NM_012193.3:c.673G>C (FZD4) NP_036325.2:p.Val225Leu
NR_120591.1:n.1748C>G (PRSS23)
NR_120592.1:n.1497C>G (PRSS23)
NR_120591.2:n.1446C>G (PRSS23)
NR_120592.2:n.1195C>G (PRSS23)
NM_012193.4:c.673G>C (FZD4) MANE Select NP_036325.2:p.Val225Leu
NR_120591.3:n.1446C>G (PRSS23)