LDH info

Canonical Allele Identifier: CA145970
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 92714
dbSNP Id: rs1805081

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23560468T>C , CM000680.2:g.23560468T>C GRCh38
NC_000018.9:g.21140432T>C , CM000680.1:g.21140432T>C GRCh37
NC_000018.8:g.19394430T>C NCBI36
NG_012795.1:g.31150A>G

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.644A>G VV NP_000262.2:p.His215Arg
XM_005258277.1:c.644A>G XP_005258334.1:p.His215Arg
XM_005258278.3:c.644A>G XP_005258335.1:p.His215Arg
XM_005258279.1:c.644A>G XP_005258336.1:p.His215Arg
XM_006722479.2:c.644A>G XP_006722542.1:p.His215Arg
XM_011526015.1:c.179A>G XP_011524317.1:p.His60Arg
XM_005258278.5:c.644A>G XP_005258335.1:p.His215Arg
XM_005258279.2:c.644A>G XP_005258336.1:p.His215Arg
XM_006722479.3:c.644A>G XP_006722542.1:p.His215Arg
XM_017025784.1:c.644A>G XP_016881273.1:p.His215Arg
XM_017025785.1:c.644A>G XP_016881274.1:p.His215Arg
XM_017025786.1:c.644A>G XP_016881275.1:p.His215Arg
XM_017025787.1:c.644A>G XP_016881276.1:p.His215Arg
NM_000271.5:c.644A>G VV MANE Preferred NP_000262.2:p.His215Arg
ENST00000269228.9:c.644A>G ENSP00000269228.4:p.His215Arg
ENST00000540608.5:n.558A>G