Canonical Allele Identifier: CA8255702
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 958044
ClinVar RCV Id: RCV001231132
dbSNP Id: rs369807854

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919922G>A , CM000678.2:g.89919922G>A GRCh38
NC_000016.9:g.89986330G>A , CM000678.1:g.89986330G>A GRCh37
NC_000016.8:g.88513831G>A NCBI36
NG_012026.1:g.7044G>A
NG_027810.1:g.2914G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.664G>A MANE Select ENSP00000451605.1:p.Ala222Thr
ENST00000639847.1:c.664G>A ENSP00000492011.1:p.Ala222Thr
ENST00000555147.1:c.664G>A ENSP00000451605.1:p.Ala222Thr
ENST00000555427.1:c.664G>A ENSP00000451760.1:p.Ala222Thr
ENST00000556922.1:c.664G>A ENSP00000451560.1:p.Ala222Thr
NM_002386.3:c.664G>A NP_002377.4:p.Ala222Thr
NM_002386.4:c.664G>A MANE Select NP_002377.4:p.Ala222Thr