LDH info

Canonical Allele Identifier: CA14511804
Gene: NPC1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2236707

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23535033C>T , CM000680.2:g.23535033C>T GRCh38
NC_000018.9:g.21114997C>T , CM000680.1:g.21114997C>T GRCh37
NC_000018.8:g.19368995C>T NCBI36
NG_012795.1:g.56585G>A

Transcript Alleles

HGVS Amino-acid change
NM_000271.4:c.3477+436G>A VV NP_000262.2:p.=
XM_005258277.1:c.3528+436G>A XP_005258334.1:p.=
XM_005258278.3:c.3528+436G>A XP_005258335.1:p.=
XM_005258279.1:c.3477+436G>A XP_005258336.1:p.=
XM_006722479.2:c.3528+436G>A XP_006722542.1:p.=
XM_011526015.1:c.3063+436G>A XP_011524317.1:p.=
XM_005258278.5:c.3528+436G>A XP_005258335.1:p.=
XM_005258279.2:c.3477+436G>A XP_005258336.1:p.=
XM_006722479.3:c.3528+436G>A XP_006722542.1:p.=
XM_017025784.1:c.3528+436G>A XP_016881273.1:p.=
XM_017025785.1:c.3528+436G>A XP_016881274.1:p.=
XM_017025786.1:c.3477+436G>A XP_016881275.1:p.=
XM_017025787.1:c.3477+436G>A XP_016881276.1:p.=
NM_000271.5:c.3477+436G>A VV MANE Preferred NP_000262.2:p.=
ENST00000269228.9:c.3477+436G>A ENSP00000269228.4:p.=
ENST00000586150.5:n.232+436G>A
ENST00000588867.1:n.232+436G>A
ENST00000591051.1:n.2555+436G>A
ENST00000591107.6:n.154+436G>A