Canonical Allele Identifier: CA409694913
Gene: MC3R HGNC NCBI

Linked Data

dbSNP Id: rs1464374114
gnomAD v2: 20-54824347-C-A
gnomAD v4: 20-56249291-C-A
MyVariant Identifiers: chr20:g.54824347C>A (hg19) chr20:g.56249291C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.56249291C>A , CM000682.2:g.56249291C>A GRCh38
NC_000020.10:g.54824347C>A , CM000682.1:g.54824347C>A GRCh37
NC_000020.9:g.54257754C>A NCBI36
NG_012200.1:g.5560C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243911.2:c.448C>A MANE Select ENSP00000243911.2:p.Leu150Ile
NM_019888.3:c.448C>A MANE Select NP_063941.3:p.Leu150Ile
Search 100 bp 5'
Search 100 bp 3'