Canonical Allele Identifier: CA397461668
Gene: MC1R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919775G>C , CM000678.2:g.89919775G>C GRCh38
NC_000016.9:g.89986183G>C , CM000678.1:g.89986183G>C GRCh37
NC_000016.8:g.88513684G>C NCBI36
NG_012026.1:g.6897G>C
NG_027810.1:g.2767G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.517G>C MANE Select ENSP00000451605.1:p.Val173Leu
ENST00000639847.1:c.517G>C ENSP00000492011.1:p.Val173Leu
ENST00000555147.1:c.517G>C ENSP00000451605.1:p.Val173Leu
ENST00000555427.1:c.517G>C ENSP00000451760.1:p.Val173Leu
ENST00000556922.1:c.517G>C ENSP00000451560.1:p.Val173Leu
NM_002386.3:c.517G>C NP_002377.4:p.Val173Leu
NM_002386.4:c.517G>C MANE Select NP_002377.4:p.Val173Leu