Canonical Allele Identifier: CA2242009872
Gene: MC1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89920146C= , CM000678.2:g.89920146C= GRCh38
NC_000016.9:g.89986554C= , CM000678.1:g.89986554C= GRCh37
NC_000016.8:g.88514055C= NCBI36
NG_012026.1:g.7268C=
NG_027810.1:g.3138C=

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.888C= MANE Select ENSP00000451605.1:p.Leu296=
ENST00000639847.1:c.888C= ENSP00000492011.1:p.Leu296=
ENST00000555147.1:c.888C= ENSP00000451605.1:p.Leu296=
ENST00000555427.1:c.888C= ENSP00000451760.1:p.Leu296=
ENST00000556922.1:c.888C= ENSP00000451560.1:p.Leu296=
NM_002386.3:c.888C= NP_002377.4:p.Leu296=
NM_002386.4:c.888C= MANE Select NP_002377.4:p.Leu296=