LDH info

Canonical Allele Identifier: CA6910540
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs767126708

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333957T>G , CM000675.2:g.23333957T>G GRCh38
NC_000013.10:g.23908096T>G , CM000675.1:g.23908096T>G GRCh37
NC_000013.9:g.22806096T>G NCBI36
NG_012342.1:g.104746A>C

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9478A>C VV NP_001264984.1:p.Met3160Leu
NM_014363.5:c.9919A>C VV NP_055178.3:p.Met3307Leu
XM_005266338.1:c.9946A>C XP_005266395.1:p.Met3316Leu
XM_011535038.1:c.9970A>C XP_011533340.1:p.Met3324Leu
XM_011535039.1:c.9937A>C XP_011533341.1:p.Met3313Leu
XM_005266338.2:c.9946A>C XP_005266395.1:p.Met3316Leu
XM_011535039.2:c.9937A>C XP_011533341.1:p.Met3313Leu
XM_017020539.1:c.9910A>C XP_016876028.1:p.Met3304Leu
XM_024449337.1:c.9946A>C XP_024305105.1:p.Met3316Leu
NM_014363.6:c.9919A>C VV MANE Preferred NP_055178.3:p.Met3307Leu
NM_001278055.2:c.9478A>C VV NP_001264984.1:p.Met3160Leu
ENST00000382292.7:c.9919A>C ENSP00000371729.3:p.Met3307Leu
ENST00000382298.7:c.9919A>C ENSP00000371735.3:p.Met3307Leu
ENST00000402364.1:c.7669A>C ENSP00000385844.1:p.Met2557Leu
ENST00000423156.1:n.1058-4473A>C ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4473A>C