Canonical Allele Identifier: CA1065910
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs782548678
ExAC: 1:147380401 A / T
gnomAD v2: 1-147380401-A-T
gnomAD v4: 1-147908274-A-T
MyVariant Identifiers: chr1:g.147380401A>T (hg19) chr1:g.147908274A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908274A>T , CM000663.2:g.147908274A>T GRCh38
NC_000001.10:g.147380401A>T , CM000663.1:g.147380401A>T GRCh37
NC_000001.9:g.145847025A>T NCBI36
NG_016242.1:g.10456A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.319A>T MANE Select ENSP00000358238.1:p.Lys107Ter
ENST00000369235.1:c.319A>T ENSP00000358238.1:p.Lys107Ter
NM_005267.4:c.319A>T NP_005258.2:p.Lys107Ter
XM_011509416.1:c.319A>T XP_011507718.1:p.Lys107Ter
XM_011509417.1:c.319A>T XP_011507719.1:p.Lys107Ter
XM_011509417.2:c.319A>T XP_011507719.1:p.Lys107Ter
XR_002956281.1:n.1234A>T
NM_005267.5:c.319A>T MANE Select NP_005258.2:p.Lys107Ter
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