Canonical Allele Identifier: CA8255498
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs775806791
ExAC: 16:89985802 C / G
gnomAD v2: 16-89985802-C-G
gnomAD v3: 16-89919394-C-G
gnomAD v4: 16-89919394-C-G
MyVariant Identifiers: chr16:g.89985802C>G (hg19) chr16:g.89919394C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919394C>G , CM000678.2:g.89919394C>G GRCh38
NC_000016.9:g.89985802C>G , CM000678.1:g.89985802C>G GRCh37
NC_000016.8:g.88513303C>G NCBI36
NG_012026.1:g.6516C>G
NG_027810.1:g.2386C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.136C>G MANE Select ENSP00000451605.1:p.Leu46Val
ENST00000639847.1:c.136C>G ENSP00000492011.1:p.Leu46Val
ENST00000555147.1:c.136C>G ENSP00000451605.1:p.Leu46Val
ENST00000555427.1:c.136C>G ENSP00000451760.1:p.Leu46Val
ENST00000556922.1:c.136C>G ENSP00000451560.1:p.Leu46Val
NM_002386.3:c.136C>G NP_002377.4:p.Leu46Val
NM_002386.4:c.136C>G MANE Select NP_002377.4:p.Leu46Val
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