LDH info

Canonical Allele Identifier: CA117532
Gene: ACTN4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5420
ClinVar RCV Id: RCV000005753
dbSNP Id: rs121908415

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38710286A>G , CM000681.2:g.38710286A>G GRCh38
NC_000019.9:g.39200926A>G , CM000681.1:g.39200926A>G GRCh37
NC_000019.8:g.43892766A>G NCBI36
NG_007082.2:g.67600A>G

Transcript Alleles

HGVS Amino-acid change
NM_004924.4:c.763A>G VV NP_004915.2:p.Lys255Glu
XM_005259281.3:c.763A>G XP_005259338.1:p.Lys255Glu
XM_005259282.3:c.733+810A>G XP_005259339.1:p.=
XM_006723406.1:c.733+810A>G XP_006723469.1:p.=
NM_001322033.1:c.733+810A>G VV NP_001308962.1:p.=
NM_004924.5:c.763A>G VV NP_004915.2:p.Lys255Glu
XM_005259281.5:c.763A>G XP_005259338.1:p.Lys255Glu
XM_006723406.3:c.733+810A>G XP_006723469.1:p.=
XM_017027331.2:c.763A>G XP_016882820.1:p.Lys255Glu
XR_001753937.1:n.123-8122T>C
NM_004924.6:c.763A>G VV MANE Preferred NP_004915.2:p.Lys255Glu
ENST00000252699.6:c.763A>G ENSP00000252699.2:p.Lys255Glu
ENST00000390009.7:c.163-4183A>G ENSP00000439497.1:p.=
ENST00000424234.6:n.272+9577A>G ENSP00000411187.3:p.=
ENST00000586538.1:n.136+810A>G ENSP00000465176.1:p.=
ENST00000588618.5:n.860A>G
ENST00000589528.1:n.285+9572A>G