LDH info

Canonical Allele Identifier: CA253667
Gene: RP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5968
ClinVar RCV Id: RCV000006332
dbSNP Id: rs104894083

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.54625917C>T , CM000670.2:g.54625917C>T GRCh38
NC_000008.10:g.55538477C>T , CM000670.1:g.55538477C>T GRCh37
NC_000008.9:g.55701030C>T NCBI36
NG_009840.1:g.14851C>T
NG_009840.2:g.14851C>T

Transcript Alleles

HGVS Amino-acid change
NM_006269.1:c.2035C>T VV NP_006260.1:p.Gln679Ter
XM_017013721.1:c.2056C>T XP_016869210.1:p.Gln686Ter
XM_017013722.1:c.2035C>T XP_016869211.1:p.Gln679Ter
NM_001375654.1:c.787+3629C>T VV NP_001362583.1:p.=
NM_006269.2:c.2035C>T VV MANE Preferred NP_006260.1:p.Gln679Ter
ENST00000220676.1:c.2035C>T ENSP00000220676.1:p.Gln679Ter