Canonical Allele Identifier: CA342222895
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2577732
ClinVar RCV Id: RCV003325069

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908000T>G , CM000663.2:g.147908000T>G GRCh38
NC_000001.10:g.147380127T>G , CM000663.1:g.147380127T>G GRCh37
NC_000001.9:g.145846751T>G NCBI36
NG_016242.1:g.10182T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.45T>G MANE Select ENSP00000358238.1:p.Asn15Lys
ENST00000369235.1:c.45T>G ENSP00000358238.1:p.Asn15Lys
NM_005267.4:c.45T>G NP_005258.2:p.Asn15Lys
XM_011509416.1:c.45T>G XP_011507718.1:p.Asn15Lys
XM_011509417.1:c.45T>G XP_011507719.1:p.Asn15Lys
XM_011509417.2:c.45T>G XP_011507719.1:p.Asn15Lys
XR_002956281.1:n.960T>G
NM_005267.5:c.45T>G MANE Select NP_005258.2:p.Asn15Lys