Canonical Allele Identifier: CA402720405
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372189A>T , CM000680.2:g.60372189A>T GRCh38
NC_000018.9:g.58039422A>T , CM000680.1:g.58039422A>T GRCh37
NC_000018.8:g.56190402A>T NCBI36
NG_016441.1:g.5580T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.161T>A MANE Select ENSP00000299766.3:p.Leu54Gln
ENST00000299766.4:c.161T>A ENSP00000299766.3:p.Leu54Gln
NM_005912.2:c.161T>A NP_005903.2:p.Leu54Gln
NM_005912.3:c.161T>A MANE Select NP_005903.2:p.Leu54Gln