LDH info

Canonical Allele Identifier: CA127964
Gene: ALB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18232
ClinVar RCV Id: RCV000019893
dbSNP Id: rs80002911

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.73413451A>G , CM000666.2:g.73413451A>G GRCh38
NC_000004.11:g.74279168A>G , CM000666.1:g.74279168A>G GRCh37
NC_000004.10:g.74498032A>G NCBI36
NG_009291.1:g.14197A>G

Transcript Alleles

HGVS Amino-acid change
NM_000477.5:c.875A>G VV NP_000468.1:p.Gln292Arg
NM_000477.6:c.875A>G VV NP_000468.1:p.Gln292Arg
NM_000477.7:c.875A>G VV MANE Preferred NP_000468.1:p.Gln292Arg
ENST00000295897.8:c.875A>G ENSP00000295897.4:p.Gln292Arg
ENST00000401494.7:c.530A>G ENSP00000384695.3:p.Gln177Arg
ENST00000415165.6:c.299A>G ENSP00000401820.2:p.Gln100Arg
ENST00000476441.6:c.*154A>G ENSP00000423727.1:p.=
ENST00000484992.1:n.195A>G
ENST00000503124.5:c.425A>G ENSP00000421027.1:p.Gln142Arg
ENST00000505649.5:n.561A>G
ENST00000509063.5:c.875A>G ENSP00000422784.1:p.Gln292Arg
ENST00000511370.1:n.408A>G
ENST00000621085.4:c.491-1655A>G ENSP00000483421.1:p.=
ENST00000621628.4:c.487-1651A>G ENSP00000480485.1:p.=