Canonical Allele Identifier: CA397462137
Gene: MC1R HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.89986253T>A (hg19) chr16:g.89919845T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919845T>A , CM000678.2:g.89919845T>A GRCh38
NC_000016.9:g.89986253T>A , CM000678.1:g.89986253T>A GRCh37
NC_000016.8:g.88513754T>A NCBI36
NG_012026.1:g.6967T>A
NG_027810.1:g.2837T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.587T>A MANE Select ENSP00000451605.1:p.Phe196Tyr
ENST00000639847.1:c.587T>A ENSP00000492011.1:p.Phe196Tyr
ENST00000555147.1:c.587T>A ENSP00000451605.1:p.Phe196Tyr
ENST00000555427.1:c.587T>A ENSP00000451760.1:p.Phe196Tyr
ENST00000556922.1:c.587T>A ENSP00000451560.1:p.Phe196Tyr
NM_002386.3:c.587T>A NP_002377.4:p.Phe196Tyr
NM_002386.4:c.587T>A MANE Select NP_002377.4:p.Phe196Tyr
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