Canonical Allele Identifier: CA397462569
Gene: MC1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919908A>T , CM000678.2:g.89919908A>T GRCh38
NC_000016.9:g.89986316A>T , CM000678.1:g.89986316A>T GRCh37
NC_000016.8:g.88513817A>T NCBI36
NG_012026.1:g.7030A>T
NG_027810.1:g.2900A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.650A>T MANE Select ENSP00000451605.1:p.His217Leu
ENST00000639847.1:c.650A>T ENSP00000492011.1:p.His217Leu
ENST00000555147.1:c.650A>T ENSP00000451605.1:p.His217Leu
ENST00000555427.1:c.650A>T ENSP00000451760.1:p.His217Leu
ENST00000556922.1:c.650A>T ENSP00000451560.1:p.His217Leu
NM_002386.3:c.650A>T NP_002377.4:p.His217Leu
NM_002386.4:c.650A>T MANE Select NP_002377.4:p.His217Leu