Canonical Allele Identifier: CA397460929
Gene: MC1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919731T>A , CM000678.2:g.89919731T>A GRCh38
NC_000016.9:g.89986139T>A , CM000678.1:g.89986139T>A GRCh37
NC_000016.8:g.88513640T>A NCBI36
NG_012026.1:g.6853T>A
NG_027810.1:g.2723T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.473T>A MANE Select ENSP00000451605.1:p.Leu158Gln
ENST00000639847.1:c.473T>A ENSP00000492011.1:p.Leu158Gln
ENST00000555147.1:c.473T>A ENSP00000451605.1:p.Leu158Gln
ENST00000555427.1:c.473T>A ENSP00000451760.1:p.Leu158Gln
ENST00000556922.1:c.473T>A ENSP00000451560.1:p.Leu158Gln
NM_002386.3:c.473T>A NP_002377.4:p.Leu158Gln
NM_002386.4:c.473T>A MANE Select NP_002377.4:p.Leu158Gln