Canonical Allele Identifier: CA128645
Gene: MC3R HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.56249280T>A
GRCh37 chr20:g.54824336T>A
Revel Score:
ENST00000243911 (MANE Select) 0.949
gnomAD v2:
20:54824336 T / A
gnomAD v3:
20:56249280 T / A
gnomAD v4:
chr20-56249280-T-A
Joint Max Group AF 0.00010061 (SAS)
Exomes Max Group AF 0.00010711 (SAS)
ClinVar RCV:
RCV000022657
ClinVar Variation:
14339
dbSNP:
74315393
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.56249280T>A , CM000682.2:g.56249280T>A GRCh38
NC_000020.10:g.54824336T>A , CM000682.1:g.54824336T>A GRCh37
NC_000020.9:g.54257743T>A NCBI36
NG_012200.1:g.5549T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243911.2:c.437T>A MANE Select ENSP00000243911.2:p.Ile146Asn
NM_019888.3:c.437T>A MANE Select NP_063941.3:p.Ile146Asn
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