LDH info

Canonical Allele Identifier: CA6910539
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs767126708

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9478A>G VV NP_001264984.1:p.Met3160Val
NM_014363.5:c.9919A>G VV NP_055178.3:p.Met3307Val
XM_005266338.1:c.9946A>G XP_005266395.1:p.Met3316Val
XM_011535038.1:c.9970A>G XP_011533340.1:p.Met3324Val
XM_011535039.1:c.9937A>G XP_011533341.1:p.Met3313Val
XM_005266338.2:c.9946A>G XP_005266395.1:p.Met3316Val
XM_011535039.2:c.9937A>G XP_011533341.1:p.Met3313Val
XM_017020539.1:c.9910A>G XP_016876028.1:p.Met3304Val
XM_024449337.1:c.9946A>G XP_024305105.1:p.Met3316Val
NM_014363.6:c.9919A>G VV MANE Preferred NP_055178.3:p.Met3307Val
NM_001278055.2:c.9478A>G VV NP_001264984.1:p.Met3160Val
ENST00000382292.7:c.9919A>G ENSP00000371729.3:p.Met3307Val
ENST00000382298.7:c.9919A>G ENSP00000371735.3:p.Met3307Val
ENST00000402364.1:c.7669A>G ENSP00000385844.1:p.Met2557Val
ENST00000423156.1:n.1058-4473A>G ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4473A>G