Canonical Allele Identifier: CA342222971
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065589
ClinVar RCV Id: RCV001775015
dbSNP Id: rs2149015335

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908019G>A , CM000663.2:g.147908019G>A GRCh38
NC_000001.10:g.147380146G>A , CM000663.1:g.147380146G>A GRCh37
NC_000001.9:g.145846770G>A NCBI36
NG_016242.1:g.10201G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.64G>A MANE Select ENSP00000358238.1:p.Gly22Ser
ENST00000369235.1:c.64G>A ENSP00000358238.1:p.Gly22Ser
NM_005267.4:c.64G>A NP_005258.2:p.Gly22Ser
XM_011509416.1:c.64G>A XP_011507718.1:p.Gly22Ser
XM_011509417.1:c.64G>A XP_011507719.1:p.Gly22Ser
XM_011509417.2:c.64G>A XP_011507719.1:p.Gly22Ser
XR_002956281.1:n.979G>A
NM_005267.5:c.64G>A MANE Select NP_005258.2:p.Gly22Ser