Canonical Allele Identifier: CA2242009520
Gene: MC1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919674C= , CM000678.2:g.89919674C= GRCh38
NC_000016.9:g.89986082C= , CM000678.1:g.89986082C= GRCh37
NC_000016.8:g.88513583C= NCBI36
NG_012026.1:g.6796C=
NG_027810.1:g.2666C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.416C= MANE Select ENSP00000451605.1:p.Ala139=
ENST00000639847.1:c.416C= ENSP00000492011.1:p.Ala139=
ENST00000555147.1:c.416C= ENSP00000451605.1:p.Ala139=
ENST00000555427.1:c.416C= ENSP00000451760.1:p.Ala139=
ENST00000556922.1:c.416C= ENSP00000451560.1:p.Ala139=
NM_002386.3:c.416C= NP_002377.4:p.Ala139=
NM_002386.4:c.416C= MANE Select NP_002377.4:p.Ala139=