Canonical Allele Identifier: CA1659501379
Gene: GJA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446684G= , CM000668.2:g.121446684G= GRCh38
NC_000006.11:g.121767830G= , CM000668.1:g.121767830G= GRCh37
NC_000006.10:g.121809529G= NCBI36
NG_008308.1:g.16086G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-148G= MANE Select ENSP00000282561.3:n.-16-148G=
ENST00000647564.1:c.-16-148G= ENSP00000497565.1:n.-16-148G=
ENST00000649003.1:c.-16-148G= ENSP00000497283.1:n.-16-148G=
ENST00000650427.1:c.-16-148G= ENSP00000497367.1:n.-16-148G=
ENST00000282561.3:c.-16-148G= ENSP00000282561.3:n.-16-148G=
NM_000165.4:c.-16-148G= NP_000156.1:n.-16-148G=
NM_000165.5:c.-16-148G= MANE Select NP_000156.1:n.-16-148G=
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