LDH info

Canonical Allele Identifier: CA220582
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92741
ClinVar RCV Id: RCV000178066
dbSNP Id: rs398123292

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877548G>A , CM000674.2:g.102877548G>A GRCh38
NC_000012.11:g.103271326G>A , CM000674.1:g.103271326G>A GRCh37
NC_000012.10:g.101795456G>A NCBI36
NG_008690.1:g.45055C>T
NG_008690.2:g.85863C>T

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.355C>T VV NP_000268.1:p.Pro119Ser
XM_011538422.1:c.355C>T XP_011536724.1:p.Pro119Ser
NM_000277.2:c.355C>T VV NP_000268.1:p.Pro119Ser
NM_001354304.1:c.355C>T VV NP_001341233.1:p.Pro119Ser
XM_017019370.2:c.355C>T XP_016874859.1:p.Pro119Ser
NM_000277.3:c.355C>T VV MANE Preferred NP_000268.1:p.Pro119Ser
ENST00000307000.7:c.340C>T ENSP00000303500.2:p.Pro114Ser
ENST00000549111.5:n.451C>T
ENST00000550978.6:n.339C>T
ENST00000551337.5:c.355C>T ENSP00000447620.1:p.Pro119Ser
ENST00000551988.5:n.444C>T
ENST00000553106.5:c.355C>T ENSP00000448059.1:p.Pro119Ser