Canonical Allele Identifier: CA2242009543
Gene: MC1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919697T= , CM000678.2:g.89919697T= GRCh38
NC_000016.9:g.89986105T= , CM000678.1:g.89986105T= GRCh37
NC_000016.8:g.88513606T= NCBI36
NG_012026.1:g.6819T=
NG_027810.1:g.2689T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.439T= MANE Select ENSP00000451605.1:p.Phe147=
ENST00000639847.1:c.439T= ENSP00000492011.1:p.Phe147=
ENST00000555147.1:c.439T= ENSP00000451605.1:p.Phe147=
ENST00000555427.1:c.439T= ENSP00000451760.1:p.Phe147=
ENST00000556922.1:c.439T= ENSP00000451560.1:p.Phe147=
NM_002386.3:c.439T= NP_002377.4:p.Phe147=
NM_002386.4:c.439T= MANE Select NP_002377.4:p.Phe147=