LDH info

Canonical Allele Identifier: CA229778
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102844
dbSNP Id: rs62508687

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852851del , CM000674.2:g.102852851del GRCh38
NC_000012.11:g.103246629del , CM000674.1:g.103246629del GRCh37
NC_000012.10:g.101770759del NCBI36
NG_008690.1:g.69752del
NG_008690.2:g.110560del

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.806del VV NP_000268.1:p.Ile269ThrfsTer?
XM_011538422.1:c.806del XP_011536724.1:p.Ile269ThrfsTer?
NM_000277.2:c.806del VV NP_000268.1:p.Ile269ThrfsTer?
NM_001354304.1:c.806del VV NP_001341233.1:p.Ile269ThrfsTer?
NM_000277.3:c.806del VV MANE Preferred NP_000268.1:p.Ile269ThrfsTer?
ENST00000307000.7:c.791del ENSP00000303500.2:p.Ile264ThrfsTer?
ENST00000549247.6:n.565del
ENST00000553106.5:c.806del ENSP00000448059.1:p.Ile269ThrfsTer?