Canonical Allele Identifier: CA402720112
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372051T>G , CM000680.2:g.60372051T>G GRCh38
NC_000018.9:g.58039284T>G , CM000680.1:g.58039284T>G GRCh37
NC_000018.8:g.56190264T>G NCBI36
NG_016441.1:g.5718A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.299A>C MANE Select ENSP00000299766.3:p.Glu100Ala
ENST00000299766.4:c.299A>C ENSP00000299766.3:p.Glu100Ala
NM_005912.2:c.299A>C NP_005903.2:p.Glu100Ala
NM_005912.3:c.299A>C MANE Select NP_005903.2:p.Glu100Ala