Canonical Allele Identifier: CA286606221
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs998644104
gnomAD v3: 16-89915962-G-A
gnomAD v4: 16-89915962-G-A
MyVariant Identifiers: chr16:g.89982370G>A (hg19) chr16:g.89915962G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89915962G>A , CM000678.2:g.89915962G>A GRCh38
NC_000016.9:g.89982370G>A , CM000678.1:g.89982370G>A GRCh37
NC_000016.8:g.88509871G>A NCBI36
NG_012026.1:g.3084G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000639847.1:c.-581+822G>A ENSP00000492011.1:n.-581+822G>A
ENST00000555427.1:c.-581+822G>A ENSP00000451760.1:n.-581+822G>A
XR_933899.1:n.1979G>A
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