Canonical Allele Identifier: CA8255593

Gene: MC1R

Linked Data

• ClinVar Variation Id: 1037091
• ClinVar RCV Id: RCV001340191
• dbSNP Id: rs374423188
• ExAC: 16:89986111 G / A
• gnomAD v2: 16-89986111-G-A
• gnomAD v3: 16-89919703-G-A
• gnomAD v4: 16-89919703-G-A
• MyVariant Identifiers: chr16:g.89986111G>A (hg19) ; chr16:g.89919703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919703G>A , CM000678.2:g.89919703G>A	GRCh38
NC_000016.9:g.89986111G>A , CM000678.1:g.89986111G>A	GRCh37
NC_000016.8:g.88513612G>A	NCBI36
NG_012026.1:g.6825G>A
NG_027810.1:g.2695G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.445G>A MANE Select	ENSP00000451605.1:p.Ala149Thr
ENST00000639847.1:c.445G>A	ENSP00000492011.1:p.Ala149Thr
ENST00000555147.1:c.445G>A	ENSP00000451605.1:p.Ala149Thr
ENST00000555427.1:c.445G>A	ENSP00000451760.1:p.Ala149Thr
ENST00000556922.1:c.445G>A	ENSP00000451560.1:p.Ala149Thr
NM_002386.3:c.445G>A	NP_002377.4:p.Ala149Thr
NM_002386.4:c.445G>A MANE Select	NP_002377.4:p.Ala149Thr