Canonical Allele Identifier: CA2242009726

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919940C= , CM000678.2:g.89919940C=	GRCh38
NC_000016.9:g.89986348C= , CM000678.1:g.89986348C=	GRCh37
NC_000016.8:g.88513849C=	NCBI36
NG_012026.1:g.7062C=
NG_027810.1:g.2932C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.682C= MANE Select	ENSP00000451605.1:p.Gln228=
ENST00000639847.1:c.682C=	ENSP00000492011.1:p.Gln228=
ENST00000555147.1:c.682C=	ENSP00000451605.1:p.Gln228=
ENST00000555427.1:c.682C=	ENSP00000451760.1:p.Gln228=
ENST00000556922.1:c.682C=	ENSP00000451560.1:p.Gln228=
NM_002386.3:c.682C=	NP_002377.4:p.Gln228=
NM_002386.4:c.682C= MANE Select	NP_002377.4:p.Gln228=