Canonical Allele Identifier: CA365558922
Gene: GJA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.121768393A>C (hg19) chr6:g.121447247A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447247A>C , CM000668.2:g.121447247A>C GRCh38
NC_000006.11:g.121768393A>C , CM000668.1:g.121768393A>C GRCh37
NC_000006.10:g.121810092A>C NCBI36
NG_008308.1:g.16649A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.400A>C MANE Select ENSP00000282561.3:p.Lys134Gln
ENST00000647564.1:c.400A>C ENSP00000497565.1:p.Lys134Gln
ENST00000649003.1:c.400A>C ENSP00000497283.1:p.Lys134Gln
ENST00000650427.1:c.400A>C ENSP00000497367.1:p.Lys134Gln
ENST00000282561.3:c.400A>C ENSP00000282561.3:p.Lys134Gln
NM_000165.4:c.400A>C NP_000156.1:p.Lys134Gln
NM_000165.5:c.400A>C MANE Select NP_000156.1:p.Lys134Gln
Search 100 bp 5'
Search 100 bp 3'