Canonical Allele Identifier: CA402720044
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372018T>G , CM000680.2:g.60372018T>G GRCh38
NC_000018.9:g.58039251T>G , CM000680.1:g.58039251T>G GRCh37
NC_000018.8:g.56190231T>G NCBI36
NG_016441.1:g.5751A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.332A>C MANE Select ENSP00000299766.3:p.Asp111Ala
ENST00000299766.4:c.332A>C ENSP00000299766.3:p.Asp111Ala
NM_005912.2:c.332A>C NP_005903.2:p.Asp111Ala
NM_005912.3:c.332A>C MANE Select NP_005903.2:p.Asp111Ala