LDH info

Canonical Allele Identifier: CA127237
Gene: CYP11A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17517
ClinVar RCV Id: RCV000019069
dbSNP Id: rs72547508

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339687G>A , CM000677.2:g.74339687G>A GRCh38
NC_000015.9:g.74632028G>A , CM000677.1:g.74632028G>A GRCh37
NC_000015.8:g.72419081G>A NCBI36
NG_007973.1:g.33055C>T

Transcript Alleles

HGVS Amino-acid change
NM_000781.2:c.1057C>T VV NP_000772.2:p.Arg353Trp
NM_001099773.1:c.583C>T VV NP_001093243.1:p.Arg195Trp
NM_000781.3:c.1057C>T VV MANE Preferred NP_000772.2:p.Arg353Trp
NM_001099773.2:c.583C>T VV NP_001093243.1:p.Arg195Trp
ENST00000268053.10:c.1057C>T ENSP00000268053.6:p.Arg353Trp
ENST00000358632.8:c.583C>T ENSP00000351455.4:p.Arg195Trp
ENST00000435365.5:c.1057C>T ENSP00000391081.1:p.Arg353Trp
ENST00000566674.5:c.583C>T ENSP00000456941.1:p.Arg195Trp