LDH info

Canonical Allele Identifier: CA229574
Gene: PAH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 102696
dbSNP Id: rs62642906

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917083_102917084del , CM000674.2:g.102917083_102917084del GRCh38
NC_000012.11:g.103310861_103310862del , CM000674.1:g.103310861_103310862del GRCh37
NC_000012.10:g.101834991_101834992del NCBI36
NG_008690.1:g.5515_5516del
NG_008690.2:g.46323_46324del

Transcript Alleles

HGVS Amino-acid change
NM_000277.1:c.43_44del VV NP_000268.1:p.Ser16Ter
XM_011538422.1:c.43_44del XP_011536724.1:p.Ser16Ter
NM_000277.2:c.43_44del VV NP_000268.1:p.Ser16Ter
NM_001354304.1:c.43_44del VV NP_001341233.1:p.Ser16Ter
XM_017019370.2:c.43_44del XP_016874859.1:p.Ser16Ter
NM_000277.3:c.43_44del VV MANE Preferred NP_000268.1:p.Ser16Ter
NM_001354304.2:c.43_44del VV NP_001341233.1:p.Ser16Ter
ENST00000307000.7:c.-105_-104del ENSP00000303500.2:p.=
ENST00000546844.1:c.43_44del ENSP00000446658.1:p.Ser16Ter
ENST00000547319.1:n.354_355del
ENST00000549111.5:n.139_140del
ENST00000550978.6:n.27_28del
ENST00000551337.5:c.43_44del ENSP00000447620.1:p.Ser16Ter
ENST00000551988.5:n.132_133del
ENST00000553106.5:c.43_44del ENSP00000448059.1:p.Ser16Ter
ENST00000635500.1:n.29-4190_29-4189del