Canonical Allele Identifier: CA128647
Gene: MC3R HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.56249736T>G , CM000682.2:g.56249736T>G GRCh38
NC_000020.10:g.54824792T>G , CM000682.1:g.54824792T>G GRCh37
NC_000020.9:g.54258199T>G NCBI36
NG_012200.1:g.6005T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243911.2:c.893T>G MANE Select ENSP00000243911.2:p.Ile298Ser
NM_019888.3:c.893T>G MANE Select NP_063941.3:p.Ile298Ser