Canonical Allele Identifier: CA397460586
Gene: MC1R HGNC NCBI

Linked Data

gnomAD v4: 16-89919656-G-A
MyVariant Identifiers: chr16:g.89986064G>A (hg19) chr16:g.89919656G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919656G>A , CM000678.2:g.89919656G>A GRCh38
NC_000016.9:g.89986064G>A , CM000678.1:g.89986064G>A GRCh37
NC_000016.8:g.88513565G>A NCBI36
NG_012026.1:g.6778G>A
NG_027810.1:g.2648G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.398G>A MANE Select ENSP00000451605.1:p.Cys133Tyr
ENST00000639847.1:c.398G>A ENSP00000492011.1:p.Cys133Tyr
ENST00000555147.1:c.398G>A ENSP00000451605.1:p.Cys133Tyr
ENST00000555427.1:c.398G>A ENSP00000451760.1:p.Cys133Tyr
ENST00000556922.1:c.398G>A ENSP00000451560.1:p.Cys133Tyr
NM_002386.3:c.398G>A NP_002377.4:p.Cys133Tyr
NM_002386.4:c.398G>A MANE Select NP_002377.4:p.Cys133Tyr
Search 100 bp 5'
Search 100 bp 3'