LDH info

Canonical Allele Identifier: CA024187
Gene: RYR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12982
dbSNP Id: rs63749869

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580440G>A , CM000681.2:g.38580440G>A GRCh38
NC_000019.9:g.39071080G>A , CM000681.1:g.39071080G>A GRCh37
NC_000019.8:g.43762920G>A NCBI36
NG_008866.1:g.151741G>A , LRG_766:g.151741G>A

Transcript Alleles

HGVS Amino-acid change
NM_000540.2:c.14582G>A , LRG_766t1:c.14582G>A NP_000531.2:p.Arg4861His
NM_001042723.1:c.14567G>A VV NP_001036188.1:p.Arg4856His
XM_006723317.1:c.14564G>A XP_006723380.1:p.Arg4855His
XM_006723319.1:c.14549G>A XP_006723382.1:p.Arg4850His
XM_011527204.1:c.14579G>A XP_011525506.1:p.Arg4860His
XM_011527205.1:c.14495G>A XP_011525507.1:p.Arg4832His
XM_006723317.2:c.14564G>A XP_006723380.1:p.Arg4855His
XM_006723319.2:c.14549G>A XP_006723382.1:p.Arg4850His
XM_011527205.2:c.14495G>A XP_011525507.1:p.Arg4832His
ENST00000355481.8:c.14567G>A ENSP00000347667.3:p.Arg4856His
ENST00000359596.7:n.14582G>A ENSP00000352608.2:p.Arg4861His
ENST00000360985.7:c.14564G>A ENSP00000354254.4:p.Arg4855His