Canonical Allele Identifier: CA382014889

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86952074T>C , CM000673.2:g.86952074T>C GRCh38
NC_000011.9:g.86663116T>C , CM000673.1:g.86663116T>C GRCh37
NC_000011.8:g.86340764T>C NCBI36
NG_011752.1:g.8318A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.682A>G (FZD4) MANE Select ENSP00000434034.1:p.Ser228Gly
ENST00000531380.1:c.682A>G (FZD4) ENSP00000434034.1:p.Ser228Gly
ENST00000532234.5:c.*1067T>C (PRSS23) ENSP00000436676.1:n.*1067T>C
ENST00000533902.2:c.*789T>C (PRSS23) ENSP00000437268.1:n.*789T>C
NM_012193.3:c.682A>G (FZD4) NP_036325.2:p.Ser228Gly
NR_120591.1:n.1739T>C (PRSS23)
NR_120592.1:n.1488T>C (PRSS23)
NR_120591.2:n.1437T>C (PRSS23)
NR_120592.2:n.1186T>C (PRSS23)
NM_012193.4:c.682A>G (FZD4) MANE Select NP_036325.2:p.Ser228Gly
NR_120591.3:n.1437T>C (PRSS23)