LDH info

Canonical Allele Identifier: CA229404
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 612
dbSNP Id: rs5030859

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840492C>T , CM000674.2:g.102840492C>T GRCh38
NC_000012.11:g.103234270C>T , CM000674.1:g.103234270C>T GRCh37
NC_000012.10:g.101758400C>T NCBI36
NG_008690.1:g.82111G>A
NG_008690.2:g.122919G>A

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.1223G>A VV NP_000268.1:p.Arg408Gln
XM_011538422.1:c.1166G>A XP_011536724.1:p.Arg389Gln
NM_000277.2:c.1223G>A VV NP_000268.1:p.Arg408Gln
NM_001354304.1:c.1223G>A VV NP_001341233.1:p.Arg408Gln
NM_000277.3:c.1223G>A VV MANE Preferred NP_000268.1:p.Arg408Gln
ENST00000307000.7:c.1208G>A ENSP00000303500.2:p.Arg403Gln
ENST00000551114.2:n.885G>A
ENST00000553106.5:c.1223G>A ENSP00000448059.1:p.Arg408Gln
ENST00000635477.1:n.327G>A
ENST00000635528.1:n.738G>A