LDH info

Canonical Allele Identifier: CA229279
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102475
dbSNP Id: rs63581460

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844377del , CM000674.2:g.102844377del GRCh38
NC_000012.11:g.103238155del , CM000674.1:g.103238155del GRCh37
NC_000012.10:g.101762285del NCBI36
NG_008690.1:g.78225del
NG_008690.2:g.119033del

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.1023del VV NP_000268.1:p.Ala342HisfsTer?
XM_011538422.1:c.966del XP_011536724.1:p.Ala323HisfsTer?
NM_000277.2:c.1023del VV NP_000268.1:p.Ala342HisfsTer?
NM_001354304.1:c.1023del VV NP_001341233.1:p.Ala342HisfsTer?
NM_000277.3:c.1023del VV MANE Preferred NP_000268.1:p.Ala342HisfsTer?
NM_001354304.2:c.1023del VV NP_001341233.1:p.Ala342HisfsTer?
ENST00000307000.7:c.1008del ENSP00000303500.2:p.Ala337HisfsTer?
ENST00000549247.6:n.782del
ENST00000551114.2:n.685del
ENST00000553106.5:c.1023del ENSP00000448059.1:p.Ala342HisfsTer?
ENST00000635477.1:n.127del
ENST00000635528.1:n.538del