Canonical Allele Identifier: CA397459808
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 651352
ClinVar RCV Id: RCV000806692
dbSNP Id: rs1164849246

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919451A>G , CM000678.2:g.89919451A>G GRCh38
NC_000016.9:g.89985859A>G , CM000678.1:g.89985859A>G GRCh37
NC_000016.8:g.88513360A>G NCBI36
NG_012026.1:g.6573A>G
NG_027810.1:g.2443A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.193A>G MANE Select ENSP00000451605.1:p.Lys65Glu
ENST00000639847.1:c.193A>G ENSP00000492011.1:p.Lys65Glu
ENST00000555147.1:c.193A>G ENSP00000451605.1:p.Lys65Glu
ENST00000555427.1:c.193A>G ENSP00000451760.1:p.Lys65Glu
ENST00000556922.1:c.193A>G ENSP00000451560.1:p.Lys65Glu
NM_002386.3:c.193A>G NP_002377.4:p.Lys65Glu
NM_002386.4:c.193A>G MANE Select NP_002377.4:p.Lys65Glu