Canonical Allele Identifier: CA286607359
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs1034737344
gnomAD v2: 16-89985753-C-G
gnomAD v4: 16-89919345-C-G
MyVariant Identifiers: chr16:g.89985753C>G (hg19) chr16:g.89919345C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919345C>G , CM000678.2:g.89919345C>G GRCh38
NC_000016.9:g.89985753C>G , CM000678.1:g.89985753C>G GRCh37
NC_000016.8:g.88513254C>G NCBI36
NG_012026.1:g.6467C>G
NG_027810.1:g.2337C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.87C>G MANE Select ENSP00000451605.1:p.Asn29Lys
ENST00000639847.1:c.87C>G ENSP00000492011.1:p.Asn29Lys
ENST00000555147.1:c.87C>G ENSP00000451605.1:p.Asn29Lys
ENST00000555427.1:c.87C>G ENSP00000451760.1:p.Asn29Lys
ENST00000556922.1:c.87C>G ENSP00000451560.1:p.Asn29Lys
NM_002386.3:c.87C>G NP_002377.4:p.Asn29Lys
NM_002386.4:c.87C>G MANE Select NP_002377.4:p.Asn29Lys
Search 100 bp 5'
Search 100 bp 3'