Canonical Allele Identifier: CA2242009705

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919910G= , CM000678.2:g.89919910G=	GRCh38
NC_000016.9:g.89986318G= , CM000678.1:g.89986318G=	GRCh37
NC_000016.8:g.88513819G=	NCBI36
NG_012026.1:g.7032G=
NG_027810.1:g.2902G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.652G= MANE Select	ENSP00000451605.1:p.Ala218=
ENST00000639847.1:c.652G=	ENSP00000492011.1:p.Ala218=
ENST00000555147.1:c.652G=	ENSP00000451605.1:p.Ala218=
ENST00000555427.1:c.652G=	ENSP00000451760.1:p.Ala218=
ENST00000556922.1:c.652G=	ENSP00000451560.1:p.Ala218=
NM_002386.3:c.652G=	NP_002377.4:p.Ala218=
NM_002386.4:c.652G= MANE Select	NP_002377.4:p.Ala218=