LDH info

Canonical Allele Identifier: CA180400
Gene: RP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 167602
dbSNP Id: rs444772

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54626497G>A , CM000670.2:g.54626497G>A GRCh38
NC_000008.10:g.55539057G>A , CM000670.1:g.55539057G>A GRCh37
NC_000008.9:g.55701610G>A NCBI36
NG_009840.1:g.15431G>A
NG_009840.2:g.15431G>A

Transcript Alleles

HGVS Amino-acid change
NM_006269.1:c.2615G>A VV NP_006260.1:p.Arg872His
XM_017013721.1:c.2636G>A XP_016869210.1:p.Arg879His
XM_017013722.1:c.2615G>A XP_016869211.1:p.Arg872His
ENST00000220676.1:c.2615G>A ENSP00000220676.1:p.Arg872His