Canonical Allele Identifier: CA2242009527
Gene: MC1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919683G= , CM000678.2:g.89919683G= GRCh38
NC_000016.9:g.89986091G= , CM000678.1:g.89986091G= GRCh37
NC_000016.8:g.88513592G= NCBI36
NG_012026.1:g.6805G=
NG_027810.1:g.2675G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.425G= MANE Select ENSP00000451605.1:p.Arg142=
ENST00000639847.1:c.425G= ENSP00000492011.1:p.Arg142=
ENST00000555147.1:c.425G= ENSP00000451605.1:p.Arg142=
ENST00000555427.1:c.425G= ENSP00000451760.1:p.Arg142=
ENST00000556922.1:c.425G= ENSP00000451560.1:p.Arg142=
NM_002386.3:c.425G= NP_002377.4:p.Arg142=
NM_002386.4:c.425G= MANE Select NP_002377.4:p.Arg142=