Canonical Allele Identifier: CA397462483
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1963026
ClinVar RCV Id: RCV002710854
dbSNP Id: rs1567758423

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919892G>T , CM000678.2:g.89919892G>T GRCh38
NC_000016.9:g.89986300G>T , CM000678.1:g.89986300G>T GRCh37
NC_000016.8:g.88513801G>T NCBI36
NG_012026.1:g.7014G>T
NG_027810.1:g.2884G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.634G>T MANE Select ENSP00000451605.1:p.Ala212Ser
ENST00000639847.1:c.634G>T ENSP00000492011.1:p.Ala212Ser
ENST00000555147.1:c.634G>T ENSP00000451605.1:p.Ala212Ser
ENST00000555427.1:c.634G>T ENSP00000451760.1:p.Ala212Ser
ENST00000556922.1:c.634G>T ENSP00000451560.1:p.Ala212Ser
NM_002386.3:c.634G>T NP_002377.4:p.Ala212Ser
NM_002386.4:c.634G>T MANE Select NP_002377.4:p.Ala212Ser