Canonical Allele Identifier: CA452134027
Gene: GJA1 HGNC NCBI

Linked Data

gnomAD v4: 6-121447255-G-A
MyVariant Identifiers: chr6:g.121768401G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447255G>A , CM000668.2:g.121447255G>A GRCh38
NC_000006.11:g.121768401G>A , CM000668.1:g.121768401G>A GRCh37
NC_000006.10:g.121810100G>A NCBI36
NG_008308.1:g.16657G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.408G>A MANE Select ENSP00000282561.3:p.Lys136=
ENST00000647564.1:c.408G>A ENSP00000497565.1:p.Lys136=
ENST00000649003.1:c.408G>A ENSP00000497283.1:p.Lys136=
ENST00000650427.1:c.408G>A ENSP00000497367.1:p.Lys136=
ENST00000282561.3:c.408G>A ENSP00000282561.3:p.Lys136=
NM_000165.4:c.408G>A NP_000156.1:p.Lys136=
NM_000165.5:c.408G>A MANE Select NP_000156.1:p.Lys136=
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Search 100 bp 3'