LDH info

Canonical Allele Identifier: CA225380341

Identifiers and link-outs to other resources

ClinVar Variation Id: 449482
ClinVar RCV Id: RCV000520718
dbSNP Id: rs80358304

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951243G>A , CM000673.2:g.86951243G>A GRCh38
NC_000011.9:g.86662285G>A , CM000673.1:g.86662285G>A GRCh37
NC_000011.8:g.86339933G>A NCBI36
NG_011752.1:g.9149C>T

Transcript Alleles

HGVS Amino-acid change
NM_012193.3:c.1513C>T (FZD4) VV NP_036325.2:p.Gln505Ter
NR_120591.1:n.908G>A (PRSS23)
NR_120592.1:n.657G>A (PRSS23)
NR_120591.2:n.606G>A (PRSS23)
NR_120592.2:n.355G>A (PRSS23)
NM_012193.4:c.1513C>T (FZD4) VV NP_036325.2:p.Gln505Ter
ENST00000528769.5:n.300G>A
ENST00000531380.1:c.1513C>T ENSP00000434034.1:p.Gln505Ter
ENST00000531521.1:n.414G>A
ENST00000532234.5:c.*236G>A ENSP00000436676.1:p.=
ENST00000533902.2:c.234G>A ENSP00000437268.1:p.Leu78=