Canonical Allele Identifier: CA365559428
Gene: GJA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.121768617C>G (hg19) chr6:g.121447471C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447471C>G , CM000668.2:g.121447471C>G GRCh38
NC_000006.11:g.121768617C>G , CM000668.1:g.121768617C>G GRCh37
NC_000006.10:g.121810316C>G NCBI36
NG_008308.1:g.16873C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.624C>G MANE Select ENSP00000282561.3:p.Ile208Met
ENST00000647564.1:c.624C>G ENSP00000497565.1:p.Ile208Met
ENST00000649003.1:c.624C>G ENSP00000497283.1:p.Ile208Met
ENST00000650427.1:c.624C>G ENSP00000497367.1:p.Ile208Met
ENST00000282561.3:c.624C>G ENSP00000282561.3:p.Ile208Met
NM_000165.4:c.624C>G NP_000156.1:p.Ile208Met
NM_000165.5:c.624C>G MANE Select NP_000156.1:p.Ile208Met
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