LDH info

Canonical Allele Identifier: CA252498
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2968
ClinVar RCV Id: RCV000003102
dbSNP Id: rs120074132

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23539393C>T , CM000680.2:g.23539393C>T GRCh38
NC_000018.9:g.21119357C>T , CM000680.1:g.21119357C>T GRCh37
NC_000018.8:g.19373355C>T NCBI36
NG_012795.1:g.52225G>A

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.2873G>A VV NP_000262.2:p.Arg958Gln
XM_005258277.1:c.2924G>A XP_005258334.1:p.Arg975Gln
XM_005258278.3:c.2924G>A XP_005258335.1:p.Arg975Gln
XM_005258279.1:c.2873G>A XP_005258336.1:p.Arg958Gln
XM_006722479.2:c.2924G>A XP_006722542.1:p.Arg975Gln
XM_011526015.1:c.2459G>A XP_011524317.1:p.Arg820Gln
XM_005258278.5:c.2924G>A XP_005258335.1:p.Arg975Gln
XM_005258279.2:c.2873G>A XP_005258336.1:p.Arg958Gln
XM_006722479.3:c.2924G>A XP_006722542.1:p.Arg975Gln
XM_017025784.1:c.2924G>A XP_016881273.1:p.Arg975Gln
XM_017025785.1:c.2924G>A XP_016881274.1:p.Arg975Gln
XM_017025786.1:c.2873G>A XP_016881275.1:p.Arg958Gln
XM_017025787.1:c.2873G>A XP_016881276.1:p.Arg958Gln
NM_000271.5:c.2873G>A VV MANE Preferred NP_000262.2:p.Arg958Gln
ENST00000269228.9:c.2873G>A ENSP00000269228.4:p.Arg958Gln
ENST00000591051.1:n.1951G>A
ENST00000591075.1:n.506G>A