Canonical Allele Identifier: CA2242009510

Gene: MC1R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919659T= , CM000678.2:g.89919659T=	GRCh38
NC_000016.9:g.89986067T= , CM000678.1:g.89986067T=	GRCh37
NC_000016.8:g.88513568T=	NCBI36
NG_012026.1:g.6781T=
NG_027810.1:g.2651T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.401T= MANE Select	ENSP00000451605.1:p.Phe134=
ENST00000639847.1:c.401T=	ENSP00000492011.1:p.Phe134=
ENST00000555147.1:c.401T=	ENSP00000451605.1:p.Phe134=
ENST00000555427.1:c.401T=	ENSP00000451760.1:p.Phe134=
ENST00000556922.1:c.401T=	ENSP00000451560.1:p.Phe134=
NM_002386.3:c.401T=	NP_002377.4:p.Phe134=
NM_002386.4:c.401T= MANE Select	NP_002377.4:p.Phe134=