Canonical Allele Identifier: CA2242009407
Gene: MC1R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919491G= , CM000678.2:g.89919491G= GRCh38
NC_000016.9:g.89985899G= , CM000678.1:g.89985899G= GRCh37
NC_000016.8:g.88513400G= NCBI36
NG_012026.1:g.6613G=
NG_027810.1:g.2483G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.233G= MANE Select ENSP00000451605.1:p.Cys78=
ENST00000639847.1:c.233G= ENSP00000492011.1:p.Cys78=
ENST00000555147.1:c.233G= ENSP00000451605.1:p.Cys78=
ENST00000555427.1:c.233G= ENSP00000451760.1:p.Cys78=
ENST00000556922.1:c.233G= ENSP00000451560.1:p.Cys78=
NM_002386.3:c.233G= NP_002377.4:p.Cys78=
NM_002386.4:c.233G= MANE Select NP_002377.4:p.Cys78=