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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
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Canonical Allele Identifier:
CA504305554
Gene: MC4R
HGNC
NCBI
Linked Data
dbSNP Id:
rs1915363118
MyVariant Identifiers:
chr18:g.58039451A>G (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60372218A>G , CM000680.2:g.60372218A>G
GRCh38
NC_000018.9:g.58039451A>G , CM000680.1:g.58039451A>G
GRCh37
NC_000018.8:g.56190431A>G
NCBI36
NG_016441.1:g.5551T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000299766.5:c.132T>C
MANE Select
ENSP00000299766.3:p.Leu44=
ENST00000299766.4:c.132T>C
ENSP00000299766.3:p.Leu44=
NM_005912.2:c.132T>C
NP_005903.2:p.Leu44=
NM_005912.3:c.132T>C
MANE Select
NP_005903.2:p.Leu44=
Search 100 bp 5'
Search 100 bp 3'