LDH info

Canonical Allele Identifier: CA483159247
Gene: SACS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 795758
ClinVar RCV Id: RCV000979103
MyVariant Identifiers: chr13:g.23908103G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333964G>A , CM000675.2:g.23333964G>A GRCh38
NC_000013.10:g.23908103G>A , CM000675.1:g.23908103G>A GRCh37
NC_000013.9:g.22806103G>A NCBI36
NG_012342.1:g.104739C>T

Transcript Alleles

HGVS Amino-acid change
NM_001278055.1:c.9471C>T VV NP_001264984.1:p.Leu3157=
NM_014363.5:c.9912C>T VV NP_055178.3:p.Leu3304=
XM_005266338.1:c.9939C>T XP_005266395.1:p.Leu3313=
XM_011535038.1:c.9963C>T XP_011533340.1:p.Leu3321=
XM_011535039.1:c.9930C>T XP_011533341.1:p.Leu3310=
XM_005266338.2:c.9939C>T XP_005266395.1:p.Leu3313=
XM_011535039.2:c.9930C>T XP_011533341.1:p.Leu3310=
XM_017020539.1:c.9903C>T XP_016876028.1:p.Leu3301=
XM_024449337.1:c.9939C>T XP_024305105.1:p.Leu3313=
NM_014363.6:c.9912C>T VV MANE Preferred NP_055178.3:p.Leu3304=
NM_001278055.2:c.9471C>T VV NP_001264984.1:p.Leu3157=
ENST00000382292.7:c.9912C>T ENSP00000371729.3:p.Leu3304=
ENST00000382298.7:c.9912C>T ENSP00000371735.3:p.Leu3304=
ENST00000402364.1:c.7662C>T ENSP00000385844.1:p.Leu2554=
ENST00000423156.1:n.1058-4480C>T ENSP00000390925.1:p.=
ENST00000455470.5:n.2130-4480C>T