LDH info

Canonical Allele Identifier: CA229613
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102729
dbSNP Id: rs199475671

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855307A>T , CM000674.2:g.102855307A>T GRCh38
NC_000012.11:g.103249085A>T , CM000674.1:g.103249085A>T GRCh37
NC_000012.10:g.101773215A>T NCBI36
NG_008690.1:g.67296T>A
NG_008690.2:g.108104T>A

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.535T>A VV NP_000268.1:p.Tyr179Asn
XM_011538422.1:c.535T>A XP_011536724.1:p.Tyr179Asn
NM_000277.2:c.535T>A VV NP_000268.1:p.Tyr179Asn
NM_001354304.1:c.535T>A VV NP_001341233.1:p.Tyr179Asn
XM_017019370.2:c.535T>A XP_016874859.1:p.Tyr179Asn
NM_000277.3:c.535T>A VV MANE Preferred NP_000268.1:p.Tyr179Asn
ENST00000307000.7:c.520T>A ENSP00000303500.2:p.Tyr174Asn
ENST00000549111.5:n.631T>A
ENST00000551988.5:n.556T>A
ENST00000553106.5:c.535T>A ENSP00000448059.1:p.Tyr179Asn