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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:
CA387462285
Gene: GJB2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr13:g.20763714A>T (hg19)
chr13:g.20189575A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.20189575A>T , CM000675.2:g.20189575A>T
GRCh38
NC_000013.10:g.20763714A>T , CM000675.1:g.20763714A>T
GRCh37
NC_000013.9:g.19661714A>T
NCBI36
NG_008358.1:g.8401T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000382844.2:c.7T>A
ENSP00000372295.1:p.Trp3Arg
ENST00000382848.5:c.7T>A
MANE Select
ENSP00000372299.4:p.Trp3Arg
ENST00000382844.1:c.7T>A
ENSP00000372295.1:p.Trp3Arg
ENST00000382848.4:c.7T>A
ENSP00000372299.4:p.Trp3Arg
NM_004004.5:c.7T>A
NP_003995.2:p.Trp3Arg
XM_011535049.1:c.7T>A
XP_011533351.1:p.Trp3Arg
XM_011535049.2:c.7T>A
XP_011533351.1:p.Trp3Arg
NM_004004.6:c.7T>A
MANE Select
NP_003995.2:p.Trp3Arg
Search 100 bp 5'
Search 100 bp 3'