LDH info

Canonical Allele Identifier: CA229337
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 597

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843753_102843755del , CM000674.2:g.102843753_102843755del GRCh38
NC_000012.11:g.103237531_103237533del , CM000674.1:g.103237531_103237533del GRCh37
NC_000012.10:g.101761661_101761663del NCBI36
NG_008690.1:g.78850_78852del
NG_008690.2:g.119658_119660del

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.1092_1094del VV NP_000268.1:p.Leu365del
XM_011538422.1:c.1035_1037del XP_011536724.1:p.Leu346del
NM_000277.2:c.1092_1094del VV NP_000268.1:p.Leu365del
NM_001354304.1:c.1092_1094del VV NP_001341233.1:p.Leu365del
NM_000277.3:c.1092_1094del VV MANE Preferred NP_000268.1:p.Leu365del
ENST00000307000.7:c.1077_1079del ENSP00000303500.2:p.Leu360del
ENST00000549247.6:n.851_853del
ENST00000551114.2:n.754_756del
ENST00000553106.5:c.1092_1094del ENSP00000448059.1:p.Leu365del
ENST00000635477.1:n.196_198del
ENST00000635528.1:n.607_609del