Canonical Allele Identifier: CA818130991
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs1393359270
MyVariant Identifiers: chr6:g.121767726T>A (hg19) chr6:g.121446580T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446580T>A , CM000668.2:g.121446580T>A GRCh38
NC_000006.11:g.121767726T>A , CM000668.1:g.121767726T>A GRCh37
NC_000006.10:g.121809425T>A NCBI36
NG_008308.1:g.15982T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-252T>A MANE Select ENSP00000282561.3:n.-16-252T>A
ENST00000647564.1:c.-16-252T>A ENSP00000497565.1:n.-16-252T>A
ENST00000649003.1:c.-16-252T>A ENSP00000497283.1:n.-16-252T>A
ENST00000650427.1:c.-16-252T>A ENSP00000497367.1:n.-16-252T>A
ENST00000282561.3:c.-16-252T>A ENSP00000282561.3:n.-16-252T>A
NM_000165.4:c.-16-252T>A NP_000156.1:n.-16-252T>A
NM_000165.5:c.-16-252T>A MANE Select NP_000156.1:n.-16-252T>A
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