Canonical Allele Identifier: CA8255512
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 321419
ClinVar RCV Id: RCV001071290
dbSNP Id: rs201632257
ExAC: 16:89985835 G / A
gnomAD v2: 16-89985835-G-A
gnomAD v3: 16-89919427-G-A
gnomAD v4: 16-89919427-G-A
MyVariant Identifiers: chr16:g.89985835G>A (hg19) chr16:g.89919427G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919427G>A , CM000678.2:g.89919427G>A GRCh38
NC_000016.9:g.89985835G>A , CM000678.1:g.89985835G>A GRCh37
NC_000016.8:g.88513336G>A NCBI36
NG_012026.1:g.6549G>A
NG_027810.1:g.2419G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.169G>A MANE Select ENSP00000451605.1:p.Ala57Thr
ENST00000639847.1:c.169G>A ENSP00000492011.1:p.Ala57Thr
ENST00000555147.1:c.169G>A ENSP00000451605.1:p.Ala57Thr
ENST00000555427.1:c.169G>A ENSP00000451760.1:p.Ala57Thr
ENST00000556922.1:c.169G>A ENSP00000451560.1:p.Ala57Thr
NM_002386.3:c.169G>A NP_002377.4:p.Ala57Thr
NM_002386.4:c.169G>A MANE Select NP_002377.4:p.Ala57Thr
Search 100 bp 5'
Search 100 bp 3'