Canonical Allele Identifier: CA8255529
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs757194495
ExAC: 16:89985895 A / C
gnomAD v2: 16-89985895-A-C
gnomAD v4: 16-89919487-A-C
MyVariant Identifiers: chr16:g.89985895A>C (hg19) chr16:g.89919487A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919487A>C , CM000678.2:g.89919487A>C GRCh38
NC_000016.9:g.89985895A>C , CM000678.1:g.89985895A>C GRCh37
NC_000016.8:g.88513396A>C NCBI36
NG_012026.1:g.6609A>C
NG_027810.1:g.2479A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.229A>C MANE Select ENSP00000451605.1:p.Ile77Leu
ENST00000639847.1:c.229A>C ENSP00000492011.1:p.Ile77Leu
ENST00000555147.1:c.229A>C ENSP00000451605.1:p.Ile77Leu
ENST00000555427.1:c.229A>C ENSP00000451760.1:p.Ile77Leu
ENST00000556922.1:c.229A>C ENSP00000451560.1:p.Ile77Leu
NM_002386.3:c.229A>C NP_002377.4:p.Ile77Leu
NM_002386.4:c.229A>C MANE Select NP_002377.4:p.Ile77Leu
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