Canonical Allele Identifier: CA123869
Gene: MC1R HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14311
dbSNP Id: rs1805005

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919436G>T , CM000678.2:g.89919436G>T GRCh38
NC_000016.9:g.89985844G>T , CM000678.1:g.89985844G>T GRCh37
NC_000016.8:g.88513345G>T NCBI36
NG_012026.1:g.6558G>T
NG_027810.1:g.2428G>T

Transcript Alleles

HGVS Amino-acid change
NM_002386.3:c.178G>T VV NP_002377.4:p.Val60Leu
ENST00000555147.1:c.178G>T ENSP00000451605.1:p.Val60Leu
ENST00000555427.1:c.178G>T ENSP00000451760.1:p.Val60Leu
ENST00000556922.1:c.178G>T ENSP00000451560.1:p.Val60Leu