LDH info

Canonical Allele Identifier: CA2092922
Gene: ATIC HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 801893
ClinVar RCV Id: RCV000987027
dbSNP Id: rs2372536

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215325297C>G , CM000664.2:g.215325297C>G GRCh38
NC_000002.11:g.216190020C>G , CM000664.1:g.216190020C>G GRCh37
NC_000002.10:g.215898265C>G NCBI36
NG_013002.1:g.18342C>G

Transcript Alleles

HGVS Amino-acid change
NM_004044.6:c.347C>G VV NP_004035.2:p.Thr116Ser
XM_017004187.2:c.347C>G XP_016859676.1:p.Thr116Ser
XM_024452919.1:c.170C>G XP_024308687.1:p.Thr57Ser
NM_004044.7:c.347C>G VV MANE Preferred NP_004035.2:p.Thr116Ser
ENST00000236959.13:c.347C>G ENSP00000236959.9:p.Thr116Ser
ENST00000413174.1:c.170C>G ENSP00000402393.1:p.Thr57Ser
ENST00000427397.5:c.*397C>G ENSP00000394317.1:p.=
ENST00000435675.5:c.344C>G ENSP00000415935.1:p.Thr115Ser
ENST00000443953.5:c.*444C>G ENSP00000406792.1:p.=
ENST00000444305.5:c.*25C>G ENSP00000388675.1:p.=
ENST00000488712.5:n.559C>G