×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA409694877
Gene: MC3R
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr20:g.54824338T>A (hg19)
chr20:g.56249282T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.56249282T>A , CM000682.2:g.56249282T>A
GRCh38
NC_000020.10:g.54824338T>A , CM000682.1:g.54824338T>A
GRCh37
NC_000020.9:g.54257745T>A
NCBI36
NG_012200.1:g.5551T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000243911.2:c.439T>A
MANE Select
ENSP00000243911.2:p.Phe147Ile
NM_019888.3:c.439T>A
MANE Select
NP_063941.3:p.Phe147Ile
Search 100 bp 5'
Search 100 bp 3'