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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:
CA821173864
Gene: NOX3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1366344655
MyVariant Identifiers:
chr6:g.155749014C>G (hg19)
chr6:g.155427880C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.155427880C>G , CM000668.2:g.155427880C>G
GRCh38
NC_000006.11:g.155749014C>G , CM000668.1:g.155749014C>G
GRCh37
NC_000006.10:g.155790706C>G
NCBI36
NG_011995.1:g.33024G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000159060.3:c.1145+914G>C
MANE Select
ENSP00000159060.2:n.1145+914G>C
ENST00000159060.2:c.1145+914G>C
ENSP00000159060.2:n.1145+914G>C
NM_015718.2:c.1145+914G>C
NP_056533.1:n.1145+914G>C
NM_015718.3:c.1145+914G>C
MANE Select
NP_056533.1:n.1145+914G>C
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