LDH info

Canonical Allele Identifier: CA220591
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92752
dbSNP Id: rs62514956

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851686C>T , CM000674.2:g.102851686C>T GRCh38
NC_000012.11:g.103245464C>T , CM000674.1:g.103245464C>T GRCh37
NC_000012.10:g.101769594C>T NCBI36
NG_008690.1:g.70917G>A
NG_008690.2:g.111725G>A

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.912+1G>A VV NP_000268.1:p.=
XM_011538422.1:c.912+1G>A XP_011536724.1:p.=
NM_000277.2:c.912+1G>A VV NP_000268.1:p.=
NM_001354304.1:c.912+1G>A VV NP_001341233.1:p.=
NM_000277.3:c.912+1G>A VV MANE Preferred NP_000268.1:p.=
NM_001354304.2:c.912+1G>A VV NP_001341233.1:p.=
ENST00000307000.7:c.897+1G>A ENSP00000303500.2:p.=
ENST00000549247.6:n.671+1G>A
ENST00000551114.2:n.574+1G>A
ENST00000553106.5:c.912+1G>A ENSP00000448059.1:p.=
ENST00000635477.1:n.73+1G>A