LDH info

Canonical Allele Identifier: CA229588
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102705
dbSNP Id: rs199475661

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866602del , CM000674.2:g.102866602del GRCh38
NC_000012.11:g.103260380del , CM000674.1:g.103260380del GRCh37
NC_000012.10:g.101784510del NCBI36
NG_008690.1:g.56001del
NG_008690.2:g.96809del

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.503del VV NP_000268.1:p.Tyr168SerfsTer27
XM_011538422.1:c.503del XP_011536724.1:p.Tyr168SerfsTer27
NM_000277.2:c.503del VV NP_000268.1:p.Tyr168SerfsTer27
NM_001354304.1:c.503del VV NP_001341233.1:p.Tyr168SerfsTer27
XM_017019370.2:c.503del XP_016874859.1:p.Tyr168SerfsTer27
NM_000277.3:c.503del VV MANE Preferred NP_000268.1:p.Tyr168SerfsTer27
NM_001354304.2:c.503del VV NP_001341233.1:p.Tyr168SerfsTer27
ENST00000307000.7:c.488del ENSP00000303500.2:p.Tyr163SerfsTer27
ENST00000549111.5:n.599del
ENST00000551988.5:n.530+10860del
ENST00000553106.5:c.503del ENSP00000448059.1:p.Tyr168SerfsTer27