LDH info

Canonical Allele Identifier: CA14531231
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1429934

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23582324C>T , CM000680.2:g.23582324C>T GRCh38
NC_000018.9:g.21162288C>T , CM000680.1:g.21162288C>T GRCh37
NC_000018.8:g.19416286C>T NCBI36
NG_012795.1:g.9294G>A

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.57+3963G>A VV NP_000262.2:p.=
XM_005258277.1:c.57+3963G>A XP_005258334.1:p.=
XM_005258278.3:c.57+3963G>A XP_005258335.1:p.=
XM_005258279.1:c.57+3963G>A XP_005258336.1:p.=
XM_006722479.2:c.57+3963G>A XP_006722542.1:p.=
XM_005258278.5:c.57+3963G>A XP_005258335.1:p.=
XM_005258279.2:c.57+3963G>A XP_005258336.1:p.=
XM_006722479.3:c.57+3963G>A XP_006722542.1:p.=
XM_017025784.1:c.57+3963G>A XP_016881273.1:p.=
XM_017025785.1:c.57+3963G>A XP_016881274.1:p.=
XM_017025786.1:c.57+3963G>A XP_016881275.1:p.=
XM_017025787.1:c.57+3963G>A XP_016881276.1:p.=
NM_000271.5:c.57+3963G>A VV MANE Preferred NP_000262.2:p.=
ENST00000269228.9:c.57+3963G>A ENSP00000269228.4:p.=
ENST00000540608.5:n.201+3963G>A