LDH info

Canonical Allele Identifier: CA119095
Gene: ATIC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7810
ClinVar RCV Id: RCV000008253
dbSNP Id: rs121434478

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215344828A>G , CM000664.2:g.215344828A>G GRCh38
NC_000002.11:g.216209551A>G , CM000664.1:g.216209551A>G GRCh37
NC_000002.10:g.215917796A>G NCBI36
NG_013002.1:g.37873A>G

Transcript Alleles

HGVS Amino-acid change
NM_004044.6:c.1277A>G VV NP_004035.2:p.Lys426Arg
XM_017004187.2:c.1277A>G XP_016859676.1:p.Lys426Arg
XM_024452919.1:c.1100A>G XP_024308687.1:p.Lys367Arg
NM_004044.7:c.1277A>G VV MANE Preferred NP_004035.2:p.Lys426Arg
ENST00000236959.13:c.1277A>G ENSP00000236959.9:p.Lys426Arg
ENST00000426233.1:n.282A>G
ENST00000435675.5:c.1274A>G ENSP00000415935.1:p.Lys425Arg
ENST00000443953.5:c.*1374A>G ENSP00000406792.1:p.=
ENST00000446622.5:n.357A>G
ENST00000459796.1:n.88A>G
ENST00000467388.1:n.189A>G
ENST00000479093.5:n.192A>G