LDH info

Canonical Allele Identifier: CA387513368
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333955C>G , CM000675.2:g.23333955C>G GRCh38
NC_000013.10:g.23908094C>G , CM000675.1:g.23908094C>G GRCh37
NC_000013.9:g.22806094C>G NCBI36
NG_012342.1:g.104748G>C

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9480G>C VV NP_001264984.1:p.Met3160Ile
NM_014363.5:c.9921G>C VV NP_055178.3:p.Met3307Ile
XM_005266338.1:c.9948G>C XP_005266395.1:p.Met3316Ile
XM_011535038.1:c.9972G>C XP_011533340.1:p.Met3324Ile
XM_011535039.1:c.9939G>C XP_011533341.1:p.Met3313Ile
XM_005266338.2:c.9948G>C XP_005266395.1:p.Met3316Ile
XM_011535039.2:c.9939G>C XP_011533341.1:p.Met3313Ile
XM_017020539.1:c.9912G>C XP_016876028.1:p.Met3304Ile
XM_024449337.1:c.9948G>C XP_024305105.1:p.Met3316Ile
NM_014363.6:c.9921G>C VV MANE Preferred NP_055178.3:p.Met3307Ile
NM_001278055.2:c.9480G>C VV NP_001264984.1:p.Met3160Ile
ENST00000382292.7:c.9921G>C ENSP00000371729.3:p.Met3307Ile
ENST00000382298.7:c.9921G>C ENSP00000371735.3:p.Met3307Ile
ENST00000402364.1:c.7671G>C ENSP00000385844.1:p.Met2557Ile
ENST00000423156.1:n.1058-4471G>C ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4471G>C