Canonical Allele Identifier: CA1659501356
Gene: GJA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446616C= , CM000668.2:g.121446616C= GRCh38
NC_000006.11:g.121767762C= , CM000668.1:g.121767762C= GRCh37
NC_000006.10:g.121809461C= NCBI36
NG_008308.1:g.16018C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-216C= MANE Select ENSP00000282561.3:n.-16-216C=
ENST00000647564.1:c.-16-216C= ENSP00000497565.1:n.-16-216C=
ENST00000649003.1:c.-16-216C= ENSP00000497283.1:n.-16-216C=
ENST00000650427.1:c.-16-216C= ENSP00000497367.1:n.-16-216C=
ENST00000282561.3:c.-16-216C= ENSP00000282561.3:n.-16-216C=
NM_000165.4:c.-16-216C= NP_000156.1:n.-16-216C=
NM_000165.5:c.-16-216C= MANE Select NP_000156.1:n.-16-216C=
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