Canonical Allele Identifier: CA365559240
Gene: GJA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.121768533C>G (hg19) chr6:g.121447387C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447387C>G , CM000668.2:g.121447387C>G GRCh38
NC_000006.11:g.121768533C>G , CM000668.1:g.121768533C>G GRCh37
NC_000006.10:g.121810232C>G NCBI36
NG_008308.1:g.16789C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.540C>G MANE Select ENSP00000282561.3:p.Ser180Arg
ENST00000647564.1:c.540C>G ENSP00000497565.1:p.Ser180Arg
ENST00000649003.1:c.540C>G ENSP00000497283.1:p.Ser180Arg
ENST00000650427.1:c.540C>G ENSP00000497367.1:p.Ser180Arg
ENST00000282561.3:c.540C>G ENSP00000282561.3:p.Ser180Arg
NM_000165.4:c.540C>G NP_000156.1:p.Ser180Arg
NM_000165.5:c.540C>G MANE Select NP_000156.1:p.Ser180Arg
Search 100 bp 5'
Search 100 bp 3'