LDH info

Canonical Allele Identifier: CA6748843
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 590340
ClinVar RCV Id: RCV000721180
dbSNP Id: rs75065106

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852885G>A , CM000674.2:g.102852885G>A GRCh38
NC_000012.11:g.103246663G>A , CM000674.1:g.103246663G>A GRCh37
NC_000012.10:g.101770793G>A NCBI36
NG_008690.1:g.69718C>T
NG_008690.2:g.110526C>T

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.772C>T VV NP_000268.1:p.Leu258=
XM_011538422.1:c.772C>T XP_011536724.1:p.Leu258=
NM_000277.2:c.772C>T VV NP_000268.1:p.Leu258=
NM_001354304.1:c.772C>T VV NP_001341233.1:p.Leu258=
NM_000277.3:c.772C>T VV MANE Preferred NP_000268.1:p.Leu258=
ENST00000307000.7:c.757C>T ENSP00000303500.2:p.Leu253=
ENST00000549247.6:n.531C>T
ENST00000553106.5:c.772C>T ENSP00000448059.1:p.Leu258=