LDH info

Canonical Allele Identifier: CA6514596
Gene: LRRK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 705018
ClinVar RCV Id: RCV000875269
dbSNP Id: rs183394865

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40340411G>A , CM000674.2:g.40340411G>A GRCh38
NC_000012.11:g.40734213G>A , CM000674.1:g.40734213G>A GRCh37
NC_000012.10:g.39020480G>A NCBI36
NG_011709.1:g.120401G>A

Transcript Alleles

HGVS Amino-acid change
NM_198578.3:c.6066G>A VV NP_940980.3:p.Gln2022=
XM_005268629.2:c.6066G>A XP_005268686.1:p.Gln2022=
XM_011537877.1:c.6066G>A XP_011536179.1:p.Gln2022=
XM_011537878.1:c.6066G>A XP_011536180.1:p.Gln2022=
XM_011537879.1:c.4863G>A XP_011536181.1:p.Gln1621=
XM_005268629.4:c.6066G>A XP_005268686.1:p.Gln2022=
XM_011537877.3:c.6066G>A XP_011536179.1:p.Gln2022=
XM_017018787.1:c.2982G>A XP_016874276.1:p.Gln994=
XM_017018788.2:c.2328G>A XP_016874277.1:p.Gln776=
XM_024448833.1:c.4863G>A XP_024304601.1:p.Gln1621=
NM_198578.4:c.6066G>A VV MANE Preferred NP_940980.4:p.Gln2022=
ENST00000298910.11:c.6066G>A ENSP00000298910.7:p.Gln2022=
ENST00000430804.5:n.3362G>A
ENST00000479187.5:n.2747G>A