Canonical Allele Identifier: CA2242009647

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919825G= , CM000678.2:g.89919825G=	GRCh38
NC_000016.9:g.89986233G= , CM000678.1:g.89986233G=	GRCh37
NC_000016.8:g.88513734G=	NCBI36
NG_012026.1:g.6947G=
NG_027810.1:g.2817G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.567G= MANE Select	ENSP00000451605.1:p.Leu189=
ENST00000639847.1:c.567G=	ENSP00000492011.1:p.Leu189=
ENST00000555147.1:c.567G=	ENSP00000451605.1:p.Leu189=
ENST00000555427.1:c.567G=	ENSP00000451760.1:p.Leu189=
ENST00000556922.1:c.567G=	ENSP00000451560.1:p.Leu189=
NM_002386.3:c.567G=	NP_002377.4:p.Leu189=
NM_002386.4:c.567G= MANE Select	NP_002377.4:p.Leu189=