Canonical Allele Identifier: CA382011028

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951250G>T , CM000673.2:g.86951250G>T GRCh38
NC_000011.9:g.86662292G>T , CM000673.1:g.86662292G>T GRCh37
NC_000011.8:g.86339940G>T NCBI36
NG_011752.1:g.9142C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1506C>A (FZD4) MANE Select ENSP00000434034.1:p.His502Gln
ENST00000528769.5:n.307G>T (PRSS23)
ENST00000531380.1:c.1506C>A (FZD4) ENSP00000434034.1:p.His502Gln
ENST00000531521.1:n.421G>T (PRSS23)
ENST00000532234.5:c.*243G>T (PRSS23) ENSP00000436676.1:n.*243G>T
ENST00000533902.2:c.241G>T (PRSS23) ENSP00000437268.1:p.Val81Leu
NM_012193.3:c.1506C>A (FZD4) NP_036325.2:p.His502Gln
NR_120591.1:n.915G>T (PRSS23)
NR_120592.1:n.664G>T (PRSS23)
NR_120591.2:n.613G>T (PRSS23)
NR_120592.2:n.362G>T (PRSS23)
NM_012193.4:c.1506C>A (FZD4) MANE Select NP_036325.2:p.His502Gln
NR_120591.3:n.613G>T (PRSS23)