Canonical Allele Identifier: CA365558910
Gene: GJA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.121768388T>A (hg19) chr6:g.121447242T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447242T>A , CM000668.2:g.121447242T>A GRCh38
NC_000006.11:g.121768388T>A , CM000668.1:g.121768388T>A GRCh37
NC_000006.10:g.121810087T>A NCBI36
NG_008308.1:g.16644T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.395T>A MANE Select ENSP00000282561.3:p.Ile132Lys
ENST00000647564.1:c.395T>A ENSP00000497565.1:p.Ile132Lys
ENST00000649003.1:c.395T>A ENSP00000497283.1:p.Ile132Lys
ENST00000650427.1:c.395T>A ENSP00000497367.1:p.Ile132Lys
ENST00000282561.3:c.395T>A ENSP00000282561.3:p.Ile132Lys
NM_000165.4:c.395T>A NP_000156.1:p.Ile132Lys
NM_000165.5:c.395T>A MANE Select NP_000156.1:p.Ile132Lys
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