Canonical Allele Identifier: CA1659501551
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs1773902125
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447147dup , CM000668.2:g.121447147dup GRCh38
NC_000006.11:g.121768293dup , CM000668.1:g.121768293dup GRCh37
NC_000006.10:g.121809992dup NCBI36
NG_008308.1:g.16549dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.300dup MANE Select ENSP00000282561.3:p.Arg101AlafsTer19
ENST00000647564.1:c.300dup ENSP00000497565.1:p.Arg101AlafsTer19
ENST00000649003.1:c.300dup ENSP00000497283.1:p.Arg101AlafsTer19
ENST00000650427.1:c.300dup ENSP00000497367.1:p.Arg101AlafsTer19
ENST00000282561.3:c.300dup ENSP00000282561.3:p.Arg101AlafsTer19
NM_000165.4:c.300dup NP_000156.1:p.Arg101AlafsTer19
NM_000165.5:c.300dup MANE Select NP_000156.1:p.Arg101AlafsTer19
Search 100 bp 5'
Search 100 bp 3'