LDH info

Canonical Allele Identifier: CA387513576
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334052A>C , CM000675.2:g.23334052A>C GRCh38
NC_000013.10:g.23908191A>C , CM000675.1:g.23908191A>C GRCh37
NC_000013.9:g.22806191A>C NCBI36
NG_012342.1:g.104651T>G

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9383T>G VV NP_001264984.1:p.Leu3128Arg
NM_014363.5:c.9824T>G VV NP_055178.3:p.Leu3275Arg
XM_005266338.1:c.9851T>G XP_005266395.1:p.Leu3284Arg
XM_011535038.1:c.9875T>G XP_011533340.1:p.Leu3292Arg
XM_011535039.1:c.9842T>G XP_011533341.1:p.Leu3281Arg
XM_005266338.2:c.9851T>G XP_005266395.1:p.Leu3284Arg
XM_011535039.2:c.9842T>G XP_011533341.1:p.Leu3281Arg
XM_017020539.1:c.9815T>G XP_016876028.1:p.Leu3272Arg
XM_024449337.1:c.9851T>G XP_024305105.1:p.Leu3284Arg
NM_014363.6:c.9824T>G VV MANE Preferred NP_055178.3:p.Leu3275Arg
NM_001278055.2:c.9383T>G VV NP_001264984.1:p.Leu3128Arg
ENST00000382292.7:c.9824T>G ENSP00000371729.3:p.Leu3275Arg
ENST00000382298.7:c.9824T>G ENSP00000371735.3:p.Leu3275Arg
ENST00000402364.1:c.7574T>G ENSP00000385844.1:p.Leu2525Arg
ENST00000423156.1:n.1058-4568T>G ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4568T>G