LDH info

Canonical Allele Identifier: CA8255535
Gene: MC1R HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 321422
dbSNP Id: rs34474212

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919505T>C , CM000678.2:g.89919505T>C GRCh38
NC_000016.9:g.89985913T>C , CM000678.1:g.89985913T>C GRCh37
NC_000016.8:g.88513414T>C NCBI36
NG_012026.1:g.6627T>C
NG_027810.1:g.2497T>C

Transcript Alleles

HGVS Amino-acid change
NM_002386.3:c.247T>C VV NP_002377.4:p.Ser83Pro
NM_002386.4:c.247T>C VV NP_002377.4:p.Ser83Pro
ENST00000555147.1:c.247T>C ENSP00000451605.1:p.Ser83Pro
ENST00000555427.1:c.247T>C ENSP00000451760.1:p.Ser83Pro
ENST00000556922.1:c.247T>C ENSP00000451560.1:p.Ser83Pro