Canonical Allele Identifier: CA497380757
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs2045697238
MyVariant Identifiers: chr16:g.89986128C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919720C>T , CM000678.2:g.89919720C>T GRCh38
NC_000016.9:g.89986128C>T , CM000678.1:g.89986128C>T GRCh37
NC_000016.8:g.88513629C>T NCBI36
NG_012026.1:g.6842C>T
NG_027810.1:g.2712C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.462C>T MANE Select ENSP00000451605.1:p.Ser154=
ENST00000639847.1:c.462C>T ENSP00000492011.1:p.Ser154=
ENST00000555147.1:c.462C>T ENSP00000451605.1:p.Ser154=
ENST00000555427.1:c.462C>T ENSP00000451760.1:p.Ser154=
ENST00000556922.1:c.462C>T ENSP00000451560.1:p.Ser154=
NM_002386.3:c.462C>T NP_002377.4:p.Ser154=
NM_002386.4:c.462C>T MANE Select NP_002377.4:p.Ser154=
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