Canonical Allele Identifier: CA397462760
Gene: MC1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919942G>T , CM000678.2:g.89919942G>T GRCh38
NC_000016.9:g.89986350G>T , CM000678.1:g.89986350G>T GRCh37
NC_000016.8:g.88513851G>T NCBI36
NG_012026.1:g.7064G>T
NG_027810.1:g.2934G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.684G>T MANE Select ENSP00000451605.1:p.Gln228His
ENST00000639847.1:c.684G>T ENSP00000492011.1:p.Gln228His
ENST00000555147.1:c.684G>T ENSP00000451605.1:p.Gln228His
ENST00000555427.1:c.684G>T ENSP00000451760.1:p.Gln228His
ENST00000556922.1:c.684G>T ENSP00000451560.1:p.Gln228His
NM_002386.3:c.684G>T NP_002377.4:p.Gln228His
NM_002386.4:c.684G>T MANE Select NP_002377.4:p.Gln228His