LDH info

Canonical Allele Identifier: CA387513568
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334049T>A , CM000675.2:g.23334049T>A GRCh38
NC_000013.10:g.23908188T>A , CM000675.1:g.23908188T>A GRCh37
NC_000013.9:g.22806188T>A NCBI36
NG_012342.1:g.104654A>T

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9386A>T VV NP_001264984.1:p.Lys3129Ile
NM_014363.5:c.9827A>T VV NP_055178.3:p.Lys3276Ile
XM_005266338.1:c.9854A>T XP_005266395.1:p.Lys3285Ile
XM_011535038.1:c.9878A>T XP_011533340.1:p.Lys3293Ile
XM_011535039.1:c.9845A>T XP_011533341.1:p.Lys3282Ile
XM_005266338.2:c.9854A>T XP_005266395.1:p.Lys3285Ile
XM_011535039.2:c.9845A>T XP_011533341.1:p.Lys3282Ile
XM_017020539.1:c.9818A>T XP_016876028.1:p.Lys3273Ile
XM_024449337.1:c.9854A>T XP_024305105.1:p.Lys3285Ile
NM_014363.6:c.9827A>T VV MANE Preferred NP_055178.3:p.Lys3276Ile
NM_001278055.2:c.9386A>T VV NP_001264984.1:p.Lys3129Ile
ENST00000382292.7:c.9827A>T ENSP00000371729.3:p.Lys3276Ile
ENST00000382298.7:c.9827A>T ENSP00000371735.3:p.Lys3276Ile
ENST00000402364.1:c.7577A>T ENSP00000385844.1:p.Lys2526Ile
ENST00000423156.1:n.1058-4565A>T ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4565A>T