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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:
CA8663136
Gene: NOG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2550235
ClinVar RCV Id:
RCV003273621
RCV003661033
dbSNP Id:
rs771355844
ExAC:
17:54671691 C / T
gnomAD v2:
17-54671691-C-T
gnomAD v4:
17-56594330-C-T
MyVariant Identifiers:
chr17:g.54671691C>T (hg19)
chr17:g.56594330C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.56594330C>T , CM000679.2:g.56594330C>T
GRCh38
NC_000017.10:g.54671691C>T , CM000679.1:g.54671691C>T
GRCh37
NC_000017.9:g.52026690C>T
NCBI36
NG_011958.1:g.5632C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000332822.6:c.107C>T
MANE Select
ENSP00000328181.4:p.Ala36Val
ENST00000332822.4:c.107C>T
ENSP00000328181.4:p.Ala36Val
NM_005450.4:c.107C>T
NP_005441.1:p.Ala36Val
NM_005450.6:c.107C>T
MANE Select
NP_005441.1:p.Ala36Val
Search 100 bp 5'
Search 100 bp 3'