LDH info

Canonical Allele Identifier: CA251526
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 581
dbSNP Id: rs76296470

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894756G>A , CM000674.2:g.102894756G>A GRCh38
NC_000012.11:g.103288534G>A , CM000674.1:g.103288534G>A GRCh37
NC_000012.10:g.101812664G>A NCBI36
NG_008690.1:g.27847C>T
NG_008690.2:g.68655C>T

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.331C>T VV NP_000268.1:p.Arg111Ter
XM_011538422.1:c.331C>T XP_011536724.1:p.Arg111Ter
NM_000277.2:c.331C>T VV NP_000268.1:p.Arg111Ter
NM_001354304.1:c.331C>T VV NP_001341233.1:p.Arg111Ter
XM_017019370.2:c.331C>T XP_016874859.1:p.Arg111Ter
NM_000277.3:c.331C>T VV MANE Preferred NP_000268.1:p.Arg111Ter
ENST00000307000.7:c.316C>T ENSP00000303500.2:p.Arg106Ter
ENST00000546844.1:c.331C>T ENSP00000446658.1:p.Arg111Ter
ENST00000548928.1:n.253C>T
ENST00000549111.5:n.427C>T
ENST00000550978.6:n.315C>T
ENST00000551337.5:c.331C>T ENSP00000447620.1:p.Arg111Ter
ENST00000551988.5:n.420C>T
ENST00000553106.5:c.331C>T ENSP00000448059.1:p.Arg111Ter