Canonical Allele Identifier: CA397460158
Gene: MC1R HGNC NCBI

Linked Data

COSMIC: COSM4738304
MyVariant Identifiers: chr16:g.89985936C>A (hg19) chr16:g.89919528C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919528C>A , CM000678.2:g.89919528C>A GRCh38
NC_000016.9:g.89985936C>A , CM000678.1:g.89985936C>A GRCh37
NC_000016.8:g.88513437C>A NCBI36
NG_012026.1:g.6650C>A
NG_027810.1:g.2520C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.270C>A MANE Select ENSP00000451605.1:p.Ser90Arg
ENST00000639847.1:c.270C>A ENSP00000492011.1:p.Ser90Arg
ENST00000555147.1:c.270C>A ENSP00000451605.1:p.Ser90Arg
ENST00000555427.1:c.270C>A ENSP00000451760.1:p.Ser90Arg
ENST00000556922.1:c.270C>A ENSP00000451560.1:p.Ser90Arg
NM_002386.3:c.270C>A NP_002377.4:p.Ser90Arg
NM_002386.4:c.270C>A MANE Select NP_002377.4:p.Ser90Arg
Search 100 bp 5'
Search 100 bp 3'