Canonical Allele Identifier: CA8255581
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1510908
ClinVar RCV Id: RCV002043190
dbSNP Id: rs765120108

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919673G>A , CM000678.2:g.89919673G>A GRCh38
NC_000016.9:g.89986081G>A , CM000678.1:g.89986081G>A GRCh37
NC_000016.8:g.88513582G>A NCBI36
NG_012026.1:g.6795G>A
NG_027810.1:g.2665G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.415G>A MANE Select ENSP00000451605.1:p.Ala139Thr
ENST00000639847.1:c.415G>A ENSP00000492011.1:p.Ala139Thr
ENST00000555147.1:c.415G>A ENSP00000451605.1:p.Ala139Thr
ENST00000555427.1:c.415G>A ENSP00000451760.1:p.Ala139Thr
ENST00000556922.1:c.415G>A ENSP00000451560.1:p.Ala139Thr
NM_002386.3:c.415G>A NP_002377.4:p.Ala139Thr
NM_002386.4:c.415G>A MANE Select NP_002377.4:p.Ala139Thr