Canonical Allele Identifier: CA8255537

Gene: MC1R

Linked Data

• ClinVar Variation Id: 321423
• ClinVar RCV Id: RCV000870725 ; RCV002510856
• dbSNP Id: rs375562624
• ExAC: 16:89985915 G / A
• gnomAD v2: 16-89985915-G-A
• gnomAD v3: 16-89919507-G-A
• gnomAD v4: 16-89919507-G-A
• MyVariant Identifiers: chr16:g.89985915G>A (hg19) ; chr16:g.89919507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919507G>A , CM000678.2:g.89919507G>A	GRCh38
NC_000016.9:g.89985915G>A , CM000678.1:g.89985915G>A	GRCh37
NC_000016.8:g.88513416G>A	NCBI36
NG_012026.1:g.6629G>A
NG_027810.1:g.2499G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000555147.2:c.249G>A MANE Select	ENSP00000451605.1:p.Ser83=
ENST00000639847.1:c.249G>A	ENSP00000492011.1:p.Ser83=
ENST00000555147.1:c.249G>A	ENSP00000451605.1:p.Ser83=
ENST00000555427.1:c.249G>A	ENSP00000451760.1:p.Ser83=
ENST00000556922.1:c.249G>A	ENSP00000451560.1:p.Ser83=
NM_002386.3:c.249G>A	NP_002377.4:p.Ser83=
NM_002386.4:c.249G>A MANE Select	NP_002377.4:p.Ser83=