LDH info

Canonical Allele Identifier: CA6748985
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 306914
ClinVar RCV Id: RCV000370322
dbSNP Id: rs148393887

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894788T>C , CM000674.2:g.102894788T>C GRCh38
NC_000012.11:g.103288566T>C , CM000674.1:g.103288566T>C GRCh37
NC_000012.10:g.101812696T>C NCBI36
NG_008690.1:g.27815A>G
NG_008690.2:g.68623A>G

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.299A>G VV NP_000268.1:p.His100Arg
XM_011538422.1:c.299A>G XP_011536724.1:p.His100Arg
NM_000277.2:c.299A>G VV NP_000268.1:p.His100Arg
NM_001354304.1:c.299A>G VV NP_001341233.1:p.His100Arg
XM_017019370.2:c.299A>G XP_016874859.1:p.His100Arg
NM_000277.3:c.299A>G VV MANE Preferred NP_000268.1:p.His100Arg
ENST00000307000.7:c.284A>G ENSP00000303500.2:p.His95Arg
ENST00000546844.1:c.299A>G ENSP00000446658.1:p.His100Arg
ENST00000548928.1:n.221A>G
ENST00000549111.5:n.395A>G
ENST00000550978.6:n.283A>G
ENST00000551337.5:c.299A>G ENSP00000447620.1:p.His100Arg
ENST00000551988.5:n.388A>G
ENST00000553106.5:c.299A>G ENSP00000448059.1:p.His100Arg