LDH info

Canonical Allele Identifier: CA124247
Gene: INSR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14699
ClinVar RCV Id: RCV000015814
dbSNP Id: rs52836744

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7267825C>T , CM000681.2:g.7267825C>T GRCh38
NC_000019.9:g.7267836C>T , CM000681.1:g.7267836C>T GRCh37
NC_000019.8:g.7218836C>T NCBI36
NG_008852.2:g.31176G>A

Transcript Alleles

HGVS Amino-acid change
NM_000208.2:c.172G>A VV NP_000199.2:p.Gly58Arg
NM_000208.3:c.172G>A VV NP_000199.2:p.Gly58Arg
NM_001079817.1:c.172G>A VV NP_001073285.1:p.Gly58Arg
NM_001079817.2:c.172G>A VV NP_001073285.1:p.Gly58Arg
XM_011527988.1:c.250G>A XP_011526290.1:p.Gly84Arg
XM_011527989.1:c.250G>A XP_011526291.1:p.Gly84Arg
XM_011527988.2:c.172G>A XP_011526290.2:p.Gly58Arg
XM_011527989.3:c.172G>A XP_011526291.2:p.Gly58Arg
NM_000208.4:c.172G>A VV MANE Preferred NP_000199.2:p.Gly58Arg
NM_001079817.3:c.172G>A VV NP_001073285.1:p.Gly58Arg
ENST00000302850.9:c.172G>A ENSP00000303830.4:p.Gly58Arg
ENST00000341500.9:c.172G>A ENSP00000342838.4:p.Gly58Arg
ENST00000598216.1:n.147G>A