LDH info

Canonical Allele Identifier: CA273110
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92746
dbSNP Id: rs77958223

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855309T>C , CM000674.2:g.102855309T>C GRCh38
NC_000012.11:g.103249087T>C , CM000674.1:g.103249087T>C GRCh37
NC_000012.10:g.101773217T>C NCBI36
NG_008690.1:g.67294A>G
NG_008690.2:g.108102A>G

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.533A>G VV NP_000268.1:p.Glu178Gly
XM_011538422.1:c.533A>G XP_011536724.1:p.Glu178Gly
NM_000277.2:c.533A>G VV NP_000268.1:p.Glu178Gly
NM_001354304.1:c.533A>G VV NP_001341233.1:p.Glu178Gly
XM_017019370.2:c.533A>G XP_016874859.1:p.Glu178Gly
NM_000277.3:c.533A>G VV MANE Preferred NP_000268.1:p.Glu178Gly
ENST00000307000.7:c.518A>G ENSP00000303500.2:p.Glu173Gly
ENST00000549111.5:n.629A>G
ENST00000551988.5:n.554A>G
ENST00000553106.5:c.533A>G ENSP00000448059.1:p.Glu178Gly