LDH info

Canonical Allele Identifier: CA275338
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102723
dbSNP Id: rs199475575

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855316G>A , CM000674.2:g.102855316G>A GRCh38
NC_000012.11:g.103249094G>A , CM000674.1:g.103249094G>A GRCh37
NC_000012.10:g.101773224G>A NCBI36
NG_008690.1:g.67287C>T
NG_008690.2:g.108095C>T

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.526C>T VV NP_000268.1:p.Arg176Ter
XM_011538422.1:c.526C>T XP_011536724.1:p.Arg176Ter
NM_000277.2:c.526C>T VV NP_000268.1:p.Arg176Ter
NM_001354304.1:c.526C>T VV NP_001341233.1:p.Arg176Ter
XM_017019370.2:c.526C>T XP_016874859.1:p.Arg176Ter
NM_000277.3:c.526C>T VV MANE Preferred NP_000268.1:p.Arg176Ter
ENST00000307000.7:c.511C>T ENSP00000303500.2:p.Arg171Ter
ENST00000549111.5:n.622C>T
ENST00000551988.5:n.547C>T
ENST00000553106.5:c.526C>T ENSP00000448059.1:p.Arg176Ter