Canonical Allele Identifier: CA2307359144
Community Standard Title: NM_005912.3(MC4R):c.538T= (p.Ser180=)
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371812A= , CM000680.2:g.60371812A= GRCh38
NC_000018.9:g.58039045A= , CM000680.1:g.58039045A= GRCh37
NC_000018.8:g.56190025A= NCBI36
NG_016441.1:g.5957T=

Transcript Alleles

HGVS Amino-acid Change
NM_005912.3:c.538T= MANE Select NP_005903.2:p.Ser180=
ENST00000299766.5:c.538T= MANE Select ENSP00000299766.3:p.Ser180=
NM_005912.2:c.538T= NP_005903.2:p.Ser180=
ENST00000299766.4:c.538T= ENSP00000299766.3:p.Ser180=