Canonical Allele Identifier: CA2307359311
Community Standard Title: NM_005912.3(MC4R):c.206T= (p.Ile69=)
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372144A= , CM000680.2:g.60372144A= GRCh38
NC_000018.9:g.58039377A= , CM000680.1:g.58039377A= GRCh37
NC_000018.8:g.56190357A= NCBI36
NG_016441.1:g.5625T=

Transcript Alleles

HGVS Amino-acid Change
NM_005912.3:c.206T= MANE Select NP_005903.2:p.Ile69=
ENST00000299766.5:c.206T= MANE Select ENSP00000299766.3:p.Ile69=
NM_005912.2:c.206T= NP_005903.2:p.Ile69=
ENST00000299766.4:c.206T= ENSP00000299766.3:p.Ile69=