Canonical Allele Identifier: CA8255551
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs768902395
ExAC: 16:89985961 C / A
gnomAD v2: 16-89985961-C-A
gnomAD v3: 16-89919553-C-A
gnomAD v4: 16-89919553-C-A
MyVariant Identifiers: chr16:g.89985961C>A (hg19) chr16:g.89919553C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919553C>A , CM000678.2:g.89919553C>A GRCh38
NC_000016.9:g.89985961C>A , CM000678.1:g.89985961C>A GRCh37
NC_000016.8:g.88513462C>A NCBI36
NG_012026.1:g.6675C>A
NG_027810.1:g.2545C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.295C>A MANE Select ENSP00000451605.1:p.Leu99Ile
ENST00000639847.1:c.295C>A ENSP00000492011.1:p.Leu99Ile
ENST00000555147.1:c.295C>A ENSP00000451605.1:p.Leu99Ile
ENST00000555427.1:c.295C>A ENSP00000451760.1:p.Leu99Ile
ENST00000556922.1:c.295C>A ENSP00000451560.1:p.Leu99Ile
NM_002386.3:c.295C>A NP_002377.4:p.Leu99Ile
NM_002386.4:c.295C>A MANE Select NP_002377.4:p.Leu99Ile
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