Canonical Allele Identifier: CA397462573
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs756060136
gnomAD v2: 16-89986317-C-A
gnomAD v3: 16-89919909-C-A
gnomAD v4: 16-89919909-C-A
MyVariant Identifiers: chr16:g.89986317C>A (hg19) chr16:g.89919909C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919909C>A , CM000678.2:g.89919909C>A GRCh38
NC_000016.9:g.89986317C>A , CM000678.1:g.89986317C>A GRCh37
NC_000016.8:g.88513818C>A NCBI36
NG_012026.1:g.7031C>A
NG_027810.1:g.2901C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.651C>A MANE Select ENSP00000451605.1:p.His217Gln
ENST00000639847.1:c.651C>A ENSP00000492011.1:p.His217Gln
ENST00000555147.1:c.651C>A ENSP00000451605.1:p.His217Gln
ENST00000555427.1:c.651C>A ENSP00000451760.1:p.His217Gln
ENST00000556922.1:c.651C>A ENSP00000451560.1:p.His217Gln
NM_002386.3:c.651C>A NP_002377.4:p.His217Gln
NM_002386.4:c.651C>A MANE Select NP_002377.4:p.His217Gln
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