Canonical Allele Identifier: CA497380410
Gene: MC1R HGNC NCBI

Linked Data

gnomAD v4: 16-89919753-T-A
MyVariant Identifiers: chr16:g.89986161T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919753T>A , CM000678.2:g.89919753T>A GRCh38
NC_000016.9:g.89986161T>A , CM000678.1:g.89986161T>A GRCh37
NC_000016.8:g.88513662T>A NCBI36
NG_012026.1:g.6875T>A
NG_027810.1:g.2745T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.495T>A MANE Select ENSP00000451605.1:p.Val165=
ENST00000639847.1:c.495T>A ENSP00000492011.1:p.Val165=
ENST00000555147.1:c.495T>A ENSP00000451605.1:p.Val165=
ENST00000555427.1:c.495T>A ENSP00000451760.1:p.Val165=
ENST00000556922.1:c.495T>A ENSP00000451560.1:p.Val165=
NM_002386.3:c.495T>A NP_002377.4:p.Val165=
NM_002386.4:c.495T>A MANE Select NP_002377.4:p.Val165=
Search 100 bp 5'
Search 100 bp 3'