LDH info

Canonical Allele Identifier: CA229336
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102518
dbSNP Id: rs5030654

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843756del , CM000674.2:g.102843756del GRCh38
NC_000012.11:g.103237534del , CM000674.1:g.103237534del GRCh37
NC_000012.10:g.101761664del NCBI36
NG_008690.1:g.78847del
NG_008690.2:g.119655del

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.1089del VV NP_000268.1:p.Lys363AsnfsTer?
XM_011538422.1:c.1032del XP_011536724.1:p.Lys344AsnfsTer?
NM_000277.2:c.1089del VV NP_000268.1:p.Lys363AsnfsTer?
NM_001354304.1:c.1089del VV NP_001341233.1:p.Lys363AsnfsTer?
NM_000277.3:c.1089del VV MANE Preferred NP_000268.1:p.Lys363AsnfsTer?
ENST00000307000.7:c.1074del ENSP00000303500.2:p.Lys358AsnfsTer?
ENST00000549247.6:n.848del
ENST00000551114.2:n.751del
ENST00000553106.5:c.1089del ENSP00000448059.1:p.Lys363AsnfsTer?
ENST00000635477.1:n.193del
ENST00000635528.1:n.604del