Canonical Allele Identifier: CA2242009553
Gene: MC1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919708G= , CM000678.2:g.89919708G= GRCh38
NC_000016.9:g.89986116G= , CM000678.1:g.89986116G= GRCh37
NC_000016.8:g.88513617G= NCBI36
NG_012026.1:g.6830G=
NG_027810.1:g.2700G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.450G= MANE Select ENSP00000451605.1:p.Leu150=
ENST00000639847.1:c.450G= ENSP00000492011.1:p.Leu150=
ENST00000555147.1:c.450G= ENSP00000451605.1:p.Leu150=
ENST00000555427.1:c.450G= ENSP00000451760.1:p.Leu150=
ENST00000556922.1:c.450G= ENSP00000451560.1:p.Leu150=
NM_002386.3:c.450G= NP_002377.4:p.Leu150=
NM_002386.4:c.450G= MANE Select NP_002377.4:p.Leu150=