LDH info

Canonical Allele Identifier: CA212676
Gene: GATA4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 30109
ClinVar RCV Id: RCV000023014
dbSNP Id: rs387906772

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11755064A>G , CM000670.2:g.11755064A>G GRCh38
NC_000008.10:g.11612573A>G , CM000670.1:g.11612573A>G GRCh37
NC_000008.9:g.11649982A>G NCBI36
NG_008177.2:g.83146A>G

Transcript Alleles

HGVS Amino-acid change
NM_001308093.1:c.931A>G VV NP_001295022.1:p.Met311Val
NM_001308094.1:c.310A>G VV NP_001295023.1:p.Met104Val
NM_002052.3:c.928A>G VV NP_002043.2:p.Met310Val
NM_002052.4:c.928A>G VV NP_002043.2:p.Met310Val
XM_005272385.3:c.931A>G XP_005272442.1:p.Met311Val
XM_005272386.1:c.931A>G XP_005272443.1:p.Met311Val
XM_006716248.1:c.931A>G XP_006716311.1:p.Met311Val
XM_011543817.1:c.931A>G XP_011542119.1:p.Met311Val
XM_011543818.1:c.931A>G XP_011542120.1:p.Met311Val
XM_005272385.4:c.931A>G XP_005272442.1:p.Met311Val
XM_011543817.3:c.931A>G XP_011542119.1:p.Met311Val
XM_011543818.2:c.931A>G XP_011542120.1:p.Met311Val
XM_017013312.2:c.931A>G XP_016868801.1:p.Met311Val
NM_001308093.3:c.931A>G VV MANE Preferred NP_001295022.1:p.Met311Val
NM_001308094.2:c.310A>G VV NP_001295023.1:p.Met104Val
NM_001374273.1:c.310A>G VV NP_001361202.1:p.Met104Val
NM_001374274.1:c.184A>G VV NP_001361203.1:p.Met62Val
NM_002052.5:c.928A>G VV NP_002043.2:p.Met310Val
ENST00000335135.8:c.928A>G ENSP00000334458.4:p.Met310Val
ENST00000526716.5:c.310A>G ENSP00000435347.1:p.Met104Val
ENST00000528712.5:c.310A>G ENSP00000435043.1:p.Met104Val
ENST00000532059.5:c.931A>G ENSP00000435712.1:p.Met311Val
ENST00000622443.2:n.925A>G ENSP00000482268.1:p.Met309Val