Canonical Allele Identifier: CA8255570
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 225411
dbSNP Id: rs33932559

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919617T>C , CM000678.2:g.89919617T>C GRCh38
NC_000016.9:g.89986025T>C , CM000678.1:g.89986025T>C GRCh37
NC_000016.8:g.88513526T>C NCBI36
NG_012026.1:g.6739T>C
NG_027810.1:g.2609T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.359T>C MANE Select ENSP00000451605.1:p.Ile120Thr
ENST00000639847.1:c.359T>C ENSP00000492011.1:p.Ile120Thr
ENST00000555147.1:c.359T>C ENSP00000451605.1:p.Ile120Thr
ENST00000555427.1:c.359T>C ENSP00000451760.1:p.Ile120Thr
ENST00000556922.1:c.359T>C ENSP00000451560.1:p.Ile120Thr
NM_002386.3:c.359T>C NP_002377.4:p.Ile120Thr
NM_002386.4:c.359T>C MANE Select NP_002377.4:p.Ile120Thr