Canonical Allele Identifier: CA397462504
Gene: MC1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919899C>A , CM000678.2:g.89919899C>A GRCh38
NC_000016.9:g.89986307C>A , CM000678.1:g.89986307C>A GRCh37
NC_000016.8:g.88513808C>A NCBI36
NG_012026.1:g.7021C>A
NG_027810.1:g.2891C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.641C>A MANE Select ENSP00000451605.1:p.Ala214Asp
ENST00000639847.1:c.641C>A ENSP00000492011.1:p.Ala214Asp
ENST00000555147.1:c.641C>A ENSP00000451605.1:p.Ala214Asp
ENST00000555427.1:c.641C>A ENSP00000451760.1:p.Ala214Asp
ENST00000556922.1:c.641C>A ENSP00000451560.1:p.Ala214Asp
NM_002386.3:c.641C>A NP_002377.4:p.Ala214Asp
NM_002386.4:c.641C>A MANE Select NP_002377.4:p.Ala214Asp