Canonical Allele Identifier: CA210719
Community Standard Title: NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)
Gene: MC4R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371827C>T , CM000680.2:g.60371827C>T GRCh38
NC_000018.9:g.58039060C>T , CM000680.1:g.58039060C>T GRCh37
NC_000018.8:g.56190040C>T NCBI36
NG_016441.1:g.5942G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005912.3:c.523G>A MANE Select NP_005903.2:p.Ala175Thr
ENST00000299766.5:c.523G>A MANE Select ENSP00000299766.3:p.Ala175Thr
NM_005912.2:c.523G>A NP_005903.2:p.Ala175Thr
ENST00000299766.4:c.523G>A ENSP00000299766.3:p.Ala175Thr
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