Canonical Allele Identifier: CA402720255
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372118G>A , CM000680.2:g.60372118G>A GRCh38
NC_000018.9:g.58039351G>A , CM000680.1:g.58039351G>A GRCh37
NC_000018.8:g.56190331G>A NCBI36
NG_016441.1:g.5651C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.232C>T MANE Select ENSP00000299766.3:p.Pro78Ser
ENST00000299766.4:c.232C>T ENSP00000299766.3:p.Pro78Ser
NM_005912.2:c.232C>T NP_005903.2:p.Pro78Ser
NM_005912.3:c.232C>T MANE Select NP_005903.2:p.Pro78Ser