Canonical Allele Identifier: CA397462817
Gene: MC1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919956A>T , CM000678.2:g.89919956A>T GRCh38
NC_000016.9:g.89986364A>T , CM000678.1:g.89986364A>T GRCh37
NC_000016.8:g.88513865A>T NCBI36
NG_012026.1:g.7078A>T
NG_027810.1:g.2948A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.698A>T MANE Select ENSP00000451605.1:p.Gln233Leu
ENST00000639847.1:c.698A>T ENSP00000492011.1:p.Gln233Leu
ENST00000555147.1:c.698A>T ENSP00000451605.1:p.Gln233Leu
ENST00000555427.1:c.698A>T ENSP00000451760.1:p.Gln233Leu
ENST00000556922.1:c.698A>T ENSP00000451560.1:p.Gln233Leu
NM_002386.3:c.698A>T NP_002377.4:p.Gln233Leu
NM_002386.4:c.698A>T MANE Select NP_002377.4:p.Gln233Leu