LDH info

Canonical Allele Identifier: CA229873
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102911
dbSNP Id: rs61747292

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846901G>A , CM000674.2:g.102846901G>A GRCh38
NC_000012.11:g.103240679G>A , CM000674.1:g.103240679G>A GRCh37
NC_000012.10:g.101764809G>A NCBI36
NG_008690.1:g.75702C>T
NG_008690.2:g.116510C>T

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.963C>T VV NP_000268.1:p.Leu321=
XM_011538422.1:c.913-2470C>T XP_011536724.1:p.=
NM_000277.2:c.963C>T VV NP_000268.1:p.Leu321=
NM_001354304.1:c.963C>T VV NP_001341233.1:p.Leu321=
NM_000277.3:c.963C>T VV MANE Preferred NP_000268.1:p.Leu321=
NM_001354304.2:c.963C>T VV NP_001341233.1:p.Leu321=
ENST00000307000.7:c.948C>T ENSP00000303500.2:p.Leu316=
ENST00000549247.6:n.722C>T
ENST00000551114.2:n.625C>T
ENST00000553106.5:c.963C>T ENSP00000448059.1:p.Leu321=
ENST00000635477.1:n.74-2470C>T
ENST00000635528.1:n.478C>T