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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:
CA399595096
Gene: NAGLU
HGNC
NCBI
Linked Data
dbSNP Id:
rs1204195617
gnomAD v2:
17-40688345-G-A
gnomAD v3:
17-42536327-G-A
gnomAD v4:
17-42536327-G-A
MyVariant Identifiers:
chr17:g.40688345G>A (hg19)
chr17:g.42536327G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42536327G>A , CM000679.2:g.42536327G>A
GRCh38
NC_000017.10:g.40688345G>A , CM000679.1:g.40688345G>A
GRCh37
NC_000017.9:g.37941871G>A
NCBI36
NG_011552.1:g.5395G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000225927.7:c.55G>A
MANE Select
ENSP00000225927.1:p.Gly19Arg
ENST00000225927.6:c.55G>A
ENSP00000225927.1:p.Gly19Arg
NM_000263.3:c.55G>A
NP_000254.2:p.Gly19Arg
XM_024450771.1:c.55G>A
XP_024306539.1:p.Gly19Arg
NM_000263.4:c.55G>A
MANE Select
NP_000254.2:p.Gly19Arg
Search 100 bp 5'
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