Canonical Allele Identifier: CA8255722
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs746134737
ExAC: 16:89986386 T / C
gnomAD v2: 16-89986386-T-C
gnomAD v4: 16-89919978-T-C
MyVariant Identifiers: chr16:g.89986386T>C (hg19) chr16:g.89919978T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919978T>C , CM000678.2:g.89919978T>C GRCh38
NC_000016.9:g.89986386T>C , CM000678.1:g.89986386T>C GRCh37
NC_000016.8:g.88513887T>C NCBI36
NG_012026.1:g.7100T>C
NG_027810.1:g.2970T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.720T>C MANE Select ENSP00000451605.1:p.Ala240=
ENST00000639847.1:c.720T>C ENSP00000492011.1:p.Ala240=
ENST00000555147.1:c.720T>C ENSP00000451605.1:p.Ala240=
ENST00000555427.1:c.720T>C ENSP00000451760.1:p.Ala240=
ENST00000556922.1:c.720T>C ENSP00000451560.1:p.Ala240=
NM_002386.3:c.720T>C NP_002377.4:p.Ala240=
NM_002386.4:c.720T>C MANE Select NP_002377.4:p.Ala240=
Search 100 bp 5'
Search 100 bp 3'