Canonical Allele Identifier: CA1659501369
Gene: GJA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446656T= , CM000668.2:g.121446656T= GRCh38
NC_000006.11:g.121767802T= , CM000668.1:g.121767802T= GRCh37
NC_000006.10:g.121809501T= NCBI36
NG_008308.1:g.16058T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-176T= MANE Select ENSP00000282561.3:n.-16-176T=
ENST00000647564.1:c.-16-176T= ENSP00000497565.1:n.-16-176T=
ENST00000649003.1:c.-16-176T= ENSP00000497283.1:n.-16-176T=
ENST00000650427.1:c.-16-176T= ENSP00000497367.1:n.-16-176T=
ENST00000282561.3:c.-16-176T= ENSP00000282561.3:n.-16-176T=
NM_000165.4:c.-16-176T= NP_000156.1:n.-16-176T=
NM_000165.5:c.-16-176T= MANE Select NP_000156.1:n.-16-176T=
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