LDH info

Canonical Allele Identifier: CA123867
Gene: MC1R HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14310
dbSNP Id: rs1805008

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919736C>T , CM000678.2:g.89919736C>T GRCh38
NC_000016.9:g.89986144C>T , CM000678.1:g.89986144C>T GRCh37
NC_000016.8:g.88513645C>T NCBI36
NG_012026.1:g.6858C>T
NG_027810.1:g.2728C>T

Transcript Alleles

HGVS Amino-acid change
NM_002386.3:c.478C>T VV NP_002377.4:p.Arg160Trp
NM_002386.4:c.478C>T VV NP_002377.4:p.Arg160Trp
ENST00000555147.1:c.478C>T ENSP00000451605.1:p.Arg160Trp
ENST00000555427.1:c.478C>T ENSP00000451760.1:p.Arg160Trp
ENST00000556922.1:c.478C>T ENSP00000451560.1:p.Arg160Trp