LDH info

Canonical Allele Identifier: CA286406375
Gene: GALNS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 520618
dbSNP Id: rs1028668536

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88841948G>A , CM000678.2:g.88841948G>A GRCh38
NC_000016.9:g.88908356G>A , CM000678.1:g.88908356G>A GRCh37
NC_000016.8:g.87435857G>A NCBI36
NG_008667.1:g.20019C>T

Transcript Alleles

HGVS Amino-acid change
NM_000512.4:c.268C>T VV NP_000503.1:p.Arg90Trp
XM_005256301.2:c.268C>T XP_005256358.1:p.Arg90Trp
XM_005256302.1:c.286C>T XP_005256359.1:p.Arg96Trp
XM_011522982.1:c.286C>T XP_011521284.1:p.Arg96Trp
XM_011522984.1:c.286C>T XP_011521286.1:p.Arg96Trp
NM_001323543.1:c.-288C>T VV NP_001310472.1:p.=
NM_001323544.1:c.286C>T VV NP_001310473.1:p.Arg96Trp
XM_005256301.3:c.268C>T XP_005256358.1:p.Arg90Trp
XM_011522982.2:c.286C>T XP_011521284.1:p.Arg96Trp
XM_017023111.2:c.286C>T XP_016878600.1:p.Arg96Trp
XM_017023112.2:c.286C>T XP_016878601.1:p.Arg96Trp
XM_017023113.1:c.-288C>T XP_016878602.1:p.=
NM_000512.5:c.268C>T VV MANE Preferred NP_000503.1:p.Arg90Trp
NM_001323543.2:c.-288C>T VV NP_001310472.1:p.=
NM_001323544.2:c.286C>T VV NP_001310473.1:p.Arg96Trp
ENST00000268695.9:c.268C>T ENSP00000268695.5:p.Arg90Trp
ENST00000562593.5:n.3677C>T
ENST00000562831.1:c.52C>T ENSP00000455174.1:p.Arg18Trp
ENST00000565364.1:n.403C>T
ENST00000567525.5:n.93C>T ENSP00000454484.1:p.Asp31=
ENST00000567779.1:n.98C>T
ENST00000568613.5:n.387C>T ENSP00000457921.1:p.=