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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:
CA200342
Gene: IFITM5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193131
ClinVar RCV Id:
RCV000173177
RCV000612030
RCV002054039
dbSNP Id:
rs57285449
ExAC:
11:299411 C / G
gnomAD v2:
11-299411-C-G
gnomAD v3:
11-299411-C-G
gnomAD v4:
11-299411-C-G
MyVariant Identifiers:
chr11:g.299411C>G (hg19)
chr11:g.299411C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.299411C>G , CM000673.2:g.299411C>G
GRCh38
NC_000011.9:g.299411C>G , CM000673.1:g.299411C>G
GRCh37
NC_000011.8:g.289411C>G
NCBI36
NG_032892.1:g.5116G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000382614.2:c.80G>C
MANE Select
ENSP00000372059.2:p.Gly27Ala
NM_001025295.2:c.80G>C
NP_001020466.1:p.Gly27Ala
NM_001025295.3:c.80G>C
MANE Select
NP_001020466.1:p.Gly27Ala
Search 100 bp 5'
Search 100 bp 3'