Canonical Allele Identifier: CA342223000
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1800689
ClinVar RCV Id: RCV002461828
MyVariant Identifiers: chr1:g.147380153T>A (hg19) chr1:g.147908026T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908026T>A , CM000663.2:g.147908026T>A GRCh38
NC_000001.10:g.147380153T>A , CM000663.1:g.147380153T>A GRCh37
NC_000001.9:g.145846777T>A NCBI36
NG_016242.1:g.10208T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.71T>A MANE Select ENSP00000358238.1:p.Val24Asp
ENST00000369235.1:c.71T>A ENSP00000358238.1:p.Val24Asp
NM_005267.4:c.71T>A NP_005258.2:p.Val24Asp
XM_011509416.1:c.71T>A XP_011507718.1:p.Val24Asp
XM_011509417.1:c.71T>A XP_011507719.1:p.Val24Asp
XM_011509417.2:c.71T>A XP_011507719.1:p.Val24Asp
XR_002956281.1:n.986T>A
NM_005267.5:c.71T>A MANE Select NP_005258.2:p.Val24Asp
Search 100 bp 5'
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