LDH info

Canonical Allele Identifier: CA3877324
Gene: EYS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 421249
dbSNP Id: rs199740930

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.65057613C>T , CM000668.2:g.65057613C>T GRCh38
NC_000006.11:g.65767506C>T , CM000668.1:g.65767506C>T GRCh37
NC_000006.10:g.65824227C>T NCBI36
NG_023443.1:g.654613G>A
NG_023443.2:g.654613G>A

Transcript Alleles

HGVS Amino-acid change
NM_001142800.1:c.2137+1G>A VV NP_001136272.1:p.=
NM_001292009.1:c.2137+1G>A VV NP_001278938.1:p.=
ENST00000370616.6:n.2137+1G>A ENSP00000359650.2:p.=
ENST00000370618.7:n.2137+1G>A ENSP00000359652.4:p.=
ENST00000370621.7:c.2137+1G>A ENSP00000359655.3:p.=
ENST00000503581.5:c.2137+1G>A ENSP00000424243.1:p.=