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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:
CA342222665
Gene: GJA8
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.147380084T>A (hg19)
chr1:g.147907957T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.147907957T>A , CM000663.2:g.147907957T>A
GRCh38
NC_000001.10:g.147380084T>A , CM000663.1:g.147380084T>A
GRCh37
NC_000001.9:g.145846708T>A
NCBI36
NG_016242.1:g.10139T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000369235.2:c.2T>A
MANE Select
ENSP00000358238.1:p.Met1Lys
ENST00000369235.1:c.2T>A
ENSP00000358238.1:p.Met1Lys
NM_005267.4:c.2T>A
NP_005258.2:p.Met1Lys
XM_011509416.1:c.2T>A
XP_011507718.1:p.Met1Lys
XM_011509417.1:c.2T>A
XP_011507719.1:p.Met1Lys
XM_011509417.2:c.2T>A
XP_011507719.1:p.Met1Lys
XR_002956281.1:n.917T>A
NM_005267.5:c.2T>A
MANE Select
NP_005258.2:p.Met1Lys
Search 100 bp 5'
Search 100 bp 3'