Canonical Allele Identifier: CA382013777

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951807A>G , CM000673.2:g.86951807A>G GRCh38
NC_000011.9:g.86662849A>G , CM000673.1:g.86662849A>G GRCh37
NC_000011.8:g.86340497A>G NCBI36
NG_011752.1:g.8585T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.949T>C (FZD4) MANE Select ENSP00000434034.1:p.Ser317Pro
ENST00000531380.1:c.949T>C (FZD4) ENSP00000434034.1:p.Ser317Pro
ENST00000532234.5:c.*800A>G (PRSS23) ENSP00000436676.1:n.*800A>G
ENST00000533902.2:c.*522A>G (PRSS23) ENSP00000437268.1:n.*522A>G
NM_012193.3:c.949T>C (FZD4) NP_036325.2:p.Ser317Pro
NR_120591.1:n.1472A>G (PRSS23)
NR_120592.1:n.1221A>G (PRSS23)
NR_120591.2:n.1170A>G (PRSS23)
NR_120592.2:n.919A>G (PRSS23)
NM_012193.4:c.949T>C (FZD4) MANE Select NP_036325.2:p.Ser317Pro
NR_120591.3:n.1170A>G (PRSS23)