Canonical Allele Identifier: CA397461687
Gene: MC1R HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.89986187T>A (hg19) chr16:g.89919779T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919779T>A , CM000678.2:g.89919779T>A GRCh38
NC_000016.9:g.89986187T>A , CM000678.1:g.89986187T>A GRCh37
NC_000016.8:g.88513688T>A NCBI36
NG_012026.1:g.6901T>A
NG_027810.1:g.2771T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.521T>A MANE Select ENSP00000451605.1:p.Val174Asp
ENST00000639847.1:c.521T>A ENSP00000492011.1:p.Val174Asp
ENST00000555147.1:c.521T>A ENSP00000451605.1:p.Val174Asp
ENST00000555427.1:c.521T>A ENSP00000451760.1:p.Val174Asp
ENST00000556922.1:c.521T>A ENSP00000451560.1:p.Val174Asp
NM_002386.3:c.521T>A NP_002377.4:p.Val174Asp
NM_002386.4:c.521T>A MANE Select NP_002377.4:p.Val174Asp
Search 100 bp 5'
Search 100 bp 3'