Canonical Allele Identifier: CA402720073
Gene: MC4R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372030A>G , CM000680.2:g.60372030A>G GRCh38
NC_000018.9:g.58039263A>G , CM000680.1:g.58039263A>G GRCh37
NC_000018.8:g.56190243A>G NCBI36
NG_016441.1:g.5739T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.320T>C MANE Select ENSP00000299766.3:p.Leu107Ser
ENST00000299766.4:c.320T>C ENSP00000299766.3:p.Leu107Ser
NM_005912.2:c.320T>C NP_005903.2:p.Leu107Ser
NM_005912.3:c.320T>C MANE Select NP_005903.2:p.Leu107Ser