LDH info

Canonical Allele Identifier: CA150917
Gene: CEP290 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1333
dbSNP Id: rs137852832

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.88077263C>A , CM000674.2:g.88077263C>A GRCh38
NC_000012.11:g.88471040C>A , CM000674.1:g.88471040C>A GRCh37
NC_000012.10:g.86995171C>A NCBI36
NG_008417.1:g.69954G>T
NG_008417.2:g.69954G>T

Transcript Alleles

HGVS Amino-acid change
NM_025114.3:c.5668G>T VV NP_079390.3:p.Gly1890Ter
XM_011538756.1:c.6529G>T XP_011537058.1:p.Gly2177Ter
XM_011538757.1:c.6529G>T XP_011537059.1:p.Gly2177Ter
XM_011538758.1:c.6529G>T XP_011537060.1:p.Gly2177Ter
XM_011538759.1:c.6529G>T XP_011537061.1:p.Gly2177Ter
XM_011538760.1:c.6529G>T XP_011537062.1:p.Gly2177Ter
XM_011538761.1:c.6529G>T XP_011537063.1:p.Gly2177Ter
XM_011538762.1:c.5761G>T XP_011537064.1:p.Gly1921Ter
XM_011538763.1:c.5668G>T XP_011537065.1:p.Gly1890Ter
XM_011538764.1:c.6529G>T XP_011537066.1:p.Gly2177Ter
XM_011538765.1:c.6529G>T XP_011537067.1:p.Gly2177Ter
XM_011538766.1:c.4990G>T XP_011537068.1:p.Gly1664Ter
XR_945163.1:n.968-5050C>A
XM_011538756.3:c.6529G>T XP_011537058.1:p.Gly2177Ter
XM_011538757.3:c.6529G>T XP_011537059.1:p.Gly2177Ter
XM_011538758.3:c.6529G>T XP_011537060.1:p.Gly2177Ter
XM_011538759.2:c.6529G>T XP_011537061.1:p.Gly2177Ter
XM_011538760.2:c.6529G>T XP_011537062.1:p.Gly2177Ter
XM_011538761.2:c.6529G>T XP_011537063.1:p.Gly2177Ter
XM_011538762.3:c.5761G>T XP_011537064.1:p.Gly1921Ter
XM_011538763.3:c.5668G>T XP_011537065.1:p.Gly1890Ter
XM_011538764.3:c.6529G>T XP_011537066.1:p.Gly2177Ter
XM_011538765.3:c.6529G>T XP_011537067.1:p.Gly2177Ter
XM_011538766.3:c.4990G>T XP_011537068.1:p.Gly1664Ter
XM_017019980.2:c.6529G>T XP_016875469.1:p.Gly2177Ter
XM_017019981.2:c.6529G>T XP_016875470.1:p.Gly2177Ter
XM_017019982.1:c.6529G>T XP_016875471.1:p.Gly2177Ter
XM_017019983.2:c.5647G>T XP_016875472.1:p.Gly1883Ter
XR_001748869.1:n.6873G>T
XR_001748870.2:n.6873G>T
NM_025114.4:c.5668G>T VV MANE Preferred NP_079390.3:p.Gly1890Ter
ENST00000309041.11:n.5674G>T ENSP00000308021.7:p.Gly1892Ter
ENST00000547691.6:c.2848G>T ENSP00000446905.1:p.Gly950Ter
ENST00000552810.5:c.5668G>T ENSP00000448012.1:p.Gly1890Ter