Canonical Allele Identifier: CA382012777

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951597G>T , CM000673.2:g.86951597G>T GRCh38
NC_000011.9:g.86662639G>T , CM000673.1:g.86662639G>T GRCh37
NC_000011.8:g.86340287G>T NCBI36
NG_011752.1:g.8795C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1159C>A (FZD4) MANE Select ENSP00000434034.1:p.Leu387Ile
ENST00000531380.1:c.1159C>A (FZD4) ENSP00000434034.1:p.Leu387Ile
ENST00000531521.1:n.768G>T (PRSS23)
ENST00000532234.5:c.*590G>T (PRSS23) ENSP00000436676.1:n.*590G>T
ENST00000533902.2:c.*312G>T (PRSS23) ENSP00000437268.1:n.*312G>T
NM_012193.3:c.1159C>A (FZD4) NP_036325.2:p.Leu387Ile
NR_120591.1:n.1262G>T (PRSS23)
NR_120592.1:n.1011G>T (PRSS23)
NR_120591.2:n.960G>T (PRSS23)
NR_120592.2:n.709G>T (PRSS23)
NM_012193.4:c.1159C>A (FZD4) MANE Select NP_036325.2:p.Leu387Ile
NR_120591.3:n.960G>T (PRSS23)