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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:
CA365557719
Gene: GJA1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr6:g.121768002C>G (hg19)
chr6:g.121446856C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.121446856C>G , CM000668.2:g.121446856C>G
GRCh38
NC_000006.11:g.121768002C>G , CM000668.1:g.121768002C>G
GRCh37
NC_000006.10:g.121809701C>G
NCBI36
NG_008308.1:g.16258C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000282561.4:c.9C>G
MANE Select
ENSP00000282561.3:p.Asp3Glu
ENST00000647564.1:c.9C>G
ENSP00000497565.1:p.Asp3Glu
ENST00000649003.1:c.9C>G
ENSP00000497283.1:p.Asp3Glu
ENST00000650427.1:c.9C>G
ENSP00000497367.1:p.Asp3Glu
ENST00000282561.3:c.9C>G
ENSP00000282561.3:p.Asp3Glu
NM_000165.4:c.9C>G
NP_000156.1:p.Asp3Glu
NM_000165.5:c.9C>G
MANE Select
NP_000156.1:p.Asp3Glu
Search 100 bp 5'
Search 100 bp 3'