Canonical Allele Identifier: CA2578728860
Gene: GJA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446837G>T , CM000668.2:g.121446837G>T GRCh38
NC_000006.11:g.121767983G>T , CM000668.1:g.121767983G>T GRCh37
NC_000006.10:g.121809682G>T NCBI36
NG_008308.1:g.16239G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.-11G>T MANE Select ENSP00000282561.3:n.-11G>T
ENST00000647564.1:c.-11G>T ENSP00000497565.1:n.-11G>T
ENST00000649003.1:c.-11G>T ENSP00000497283.1:n.-11G>T
ENST00000650427.1:c.-11G>T ENSP00000497367.1:n.-11G>T
ENST00000282561.3:c.-11G>T ENSP00000282561.3:n.-11G>T
NM_000165.4:c.-11G>T NP_000156.1:n.-11G>T
NM_000165.5:c.-11G>T MANE Select NP_000156.1:n.-11G>T
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