LDH info

Canonical Allele Identifier: CA6910557
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 700844
ClinVar RCV Id: RCV000869175
dbSNP Id: rs771522497

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334054A>G , CM000675.2:g.23334054A>G GRCh38
NC_000013.10:g.23908193A>G , CM000675.1:g.23908193A>G GRCh37
NC_000013.9:g.22806193A>G NCBI36
NG_012342.1:g.104649T>C

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9381T>C VV NP_001264984.1:p.Thr3127=
NM_014363.5:c.9822T>C VV NP_055178.3:p.Thr3274=
XM_005266338.1:c.9849T>C XP_005266395.1:p.Thr3283=
XM_011535038.1:c.9873T>C XP_011533340.1:p.Thr3291=
XM_011535039.1:c.9840T>C XP_011533341.1:p.Thr3280=
XM_005266338.2:c.9849T>C XP_005266395.1:p.Thr3283=
XM_011535039.2:c.9840T>C XP_011533341.1:p.Thr3280=
XM_017020539.1:c.9813T>C XP_016876028.1:p.Thr3271=
XM_024449337.1:c.9849T>C XP_024305105.1:p.Thr3283=
NM_014363.6:c.9822T>C VV MANE Preferred NP_055178.3:p.Thr3274=
NM_001278055.2:c.9381T>C VV NP_001264984.1:p.Thr3127=
ENST00000382292.7:c.9822T>C ENSP00000371729.3:p.Thr3274=
ENST00000382298.7:c.9822T>C ENSP00000371735.3:p.Thr3274=
ENST00000402364.1:c.7572T>C ENSP00000385844.1:p.Thr2524=
ENST00000423156.1:n.1058-4570T>C ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4570T>C