Canonical Allele Identifier: CA301530009
Community Standard Title: NM_005912.3(MC4R):c.896C>T (p.Pro299Leu)
Gene: MC4R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371454G>A , CM000680.2:g.60371454G>A GRCh38
NC_000018.9:g.58038687G>A , CM000680.1:g.58038687G>A GRCh37
NC_000018.8:g.56189667G>A NCBI36
NG_016441.1:g.6315C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005912.3:c.896C>T MANE Select NP_005903.2:p.Pro299Leu
ENST00000299766.5:c.896C>T MANE Select ENSP00000299766.3:p.Pro299Leu
NM_005912.2:c.896C>T NP_005903.2:p.Pro299Leu
ENST00000299766.4:c.896C>T ENSP00000299766.3:p.Pro299Leu
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