LDH info

Canonical Allele Identifier: CA229354
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102531
ClinVar RCV Id: RCV000088764
dbSNP Id: rs199475674

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912848dup , CM000674.2:g.102912848dup GRCh38
NC_000012.11:g.103306626dup , CM000674.1:g.103306626dup GRCh37
NC_000012.10:g.101830756dup NCBI36
NG_008690.1:g.9755dup
NG_008690.2:g.50563dup

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.111dup VV NP_000268.1:p.Ile38AspfsTer19
XM_011538422.1:c.111dup XP_011536724.1:p.Ile38AspfsTer19
NM_000277.2:c.111dup VV NP_000268.1:p.Ile38AspfsTer19
NM_001354304.1:c.111dup VV NP_001341233.1:p.Ile38AspfsTer19
XM_017019370.2:c.111dup XP_016874859.1:p.Ile38AspfsTer19
NM_000277.3:c.111dup VV MANE Preferred NP_000268.1:p.Ile38AspfsTer19
ENST00000307000.7:c.96dup ENSP00000303500.2:p.Ile33AspfsTer19
ENST00000546844.1:c.111dup ENSP00000446658.1:p.Ile38AspfsTer19
ENST00000548677.2:n.198dup
ENST00000548928.1:n.33dup
ENST00000549111.5:n.207dup
ENST00000550978.6:n.95dup
ENST00000551337.5:c.111dup ENSP00000447620.1:p.Ile38AspfsTer19
ENST00000551988.5:n.200dup
ENST00000553106.5:c.111dup ENSP00000448059.1:p.Ile38AspfsTer19
ENST00000635500.1:n.79dup