LDH info

Canonical Allele Identifier: CA253511
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5514
ClinVar RCV Id: RCV000005849
dbSNP Id: rs137853016

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23331656C>G , CM000675.2:g.23331656C>G GRCh38
NC_000013.10:g.23905795C>G , CM000675.1:g.23905795C>G GRCh37
NC_000013.9:g.22803795C>G NCBI36
NG_012342.1:g.107047G>C

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.11779G>C VV NP_001264984.1:p.Ala3927Pro
NM_014363.5:c.12220G>C VV NP_055178.3:p.Ala4074Pro
XM_005266338.1:c.12247G>C XP_005266395.1:p.Ala4083Pro
XM_011535038.1:c.12271G>C XP_011533340.1:p.Ala4091Pro
XM_011535039.1:c.12238G>C XP_011533341.1:p.Ala4080Pro
XM_005266338.2:c.12247G>C XP_005266395.1:p.Ala4083Pro
XM_011535039.2:c.12238G>C XP_011533341.1:p.Ala4080Pro
XM_017020539.1:c.12211G>C XP_016876028.1:p.Ala4071Pro
XM_024449337.1:c.12247G>C XP_024305105.1:p.Ala4083Pro
NM_014363.6:c.12220G>C VV MANE Preferred NP_055178.3:p.Ala4074Pro
NM_001278055.2:c.11779G>C VV NP_001264984.1:p.Ala3927Pro
ENST00000382292.7:c.12220G>C ENSP00000371729.3:p.Ala4074Pro
ENST00000382298.7:c.12220G>C ENSP00000371735.3:p.Ala4074Pro
ENST00000402364.1:c.9970G>C ENSP00000385844.1:p.Ala3324Pro
ENST00000423156.1:n.1058-2172G>C ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-2172G>C