LDH info

Canonical Allele Identifier: CA387513389
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333965A>G , CM000675.2:g.23333965A>G GRCh38
NC_000013.10:g.23908104A>G , CM000675.1:g.23908104A>G GRCh37
NC_000013.9:g.22806104A>G NCBI36
NG_012342.1:g.104738T>C

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9470T>C VV NP_001264984.1:p.Leu3157Pro
NM_014363.5:c.9911T>C VV NP_055178.3:p.Leu3304Pro
XM_005266338.1:c.9938T>C XP_005266395.1:p.Leu3313Pro
XM_011535038.1:c.9962T>C XP_011533340.1:p.Leu3321Pro
XM_011535039.1:c.9929T>C XP_011533341.1:p.Leu3310Pro
XM_005266338.2:c.9938T>C XP_005266395.1:p.Leu3313Pro
XM_011535039.2:c.9929T>C XP_011533341.1:p.Leu3310Pro
XM_017020539.1:c.9902T>C XP_016876028.1:p.Leu3301Pro
XM_024449337.1:c.9938T>C XP_024305105.1:p.Leu3313Pro
NM_014363.6:c.9911T>C VV MANE Preferred NP_055178.3:p.Leu3304Pro
NM_001278055.2:c.9470T>C VV NP_001264984.1:p.Leu3157Pro
ENST00000382292.7:c.9911T>C ENSP00000371729.3:p.Leu3304Pro
ENST00000382298.7:c.9911T>C ENSP00000371735.3:p.Leu3304Pro
ENST00000402364.1:c.7661T>C ENSP00000385844.1:p.Leu2554Pro
ENST00000423156.1:n.1058-4481T>C ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4481T>C