Canonical Allele Identifier: CA2242009379
Gene: MC1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919447C= , CM000678.2:g.89919447C= GRCh38
NC_000016.9:g.89985855C= , CM000678.1:g.89985855C= GRCh37
NC_000016.8:g.88513356C= NCBI36
NG_012026.1:g.6569C=
NG_027810.1:g.2439C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.189C= MANE Select ENSP00000451605.1:p.Ile63=
ENST00000639847.1:c.189C= ENSP00000492011.1:p.Ile63=
ENST00000555147.1:c.189C= ENSP00000451605.1:p.Ile63=
ENST00000555427.1:c.189C= ENSP00000451760.1:p.Ile63=
ENST00000556922.1:c.189C= ENSP00000451560.1:p.Ile63=
NM_002386.3:c.189C= NP_002377.4:p.Ile63=
NM_002386.4:c.189C= MANE Select NP_002377.4:p.Ile63=