LDH info

Canonical Allele Identifier: CA212671
Gene: GATA4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 30101
ClinVar RCV Id: RCV000023006
dbSNP Id: rs368489876

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11757012G>A , CM000670.2:g.11757012G>A GRCh38
NC_000008.10:g.11614521G>A , CM000670.1:g.11614521G>A GRCh37
NC_000008.9:g.11651930G>A NCBI36
NG_008177.2:g.85094G>A

Transcript Alleles

HGVS Amino-acid change
NM_001308093.1:c.1078G>A VV NP_001295022.1:p.Glu360Lys
NM_001308094.1:c.457G>A VV NP_001295023.1:p.Glu153Lys
NM_002052.3:c.1075G>A VV NP_002043.2:p.Glu359Lys
NM_002052.4:c.1075G>A VV NP_002043.2:p.Glu359Lys
XM_005272385.3:c.1078G>A XP_005272442.1:p.Glu360Lys
XM_005272386.1:c.1078G>A XP_005272443.1:p.Glu360Lys
XM_006716248.1:c.1078G>A XP_006716311.1:p.Glu360Lys
XM_011543817.1:c.1078G>A XP_011542119.1:p.Glu360Lys
XM_011543818.1:c.1078G>A XP_011542120.1:p.Glu360Lys
XM_005272385.4:c.1078G>A XP_005272442.1:p.Glu360Lys
XM_011543817.3:c.1078G>A XP_011542119.1:p.Glu360Lys
XM_011543818.2:c.1078G>A XP_011542120.1:p.Glu360Lys
XM_017013312.2:c.1078G>A XP_016868801.1:p.Glu360Lys
NM_001308093.3:c.1078G>A VV MANE Preferred NP_001295022.1:p.Glu360Lys
NM_001308094.2:c.457G>A VV NP_001295023.1:p.Glu153Lys
NM_001374273.1:c.457G>A VV NP_001361202.1:p.Glu153Lys
NM_001374274.1:c.331G>A VV NP_001361203.1:p.Glu111Lys
NM_002052.5:c.1075G>A VV NP_002043.2:p.Glu359Lys
ENST00000335135.8:c.1075G>A ENSP00000334458.4:p.Glu359Lys
ENST00000526021.1:n.520G>A
ENST00000526716.5:c.457G>A ENSP00000435347.1:p.Glu153Lys
ENST00000528712.5:c.457G>A ENSP00000435043.1:p.Glu153Lys
ENST00000532059.5:c.1078G>A ENSP00000435712.1:p.Glu360Lys
ENST00000622443.2:n.1072G>A ENSP00000482268.1:p.Glu358Lys