Canonical Allele Identifier: CA342222913
Gene: GJA8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908004C>A , CM000663.2:g.147908004C>A GRCh38
NC_000001.10:g.147380131C>A , CM000663.1:g.147380131C>A GRCh37
NC_000001.9:g.145846755C>A NCBI36
NG_016242.1:g.10186C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.49C>A MANE Select ENSP00000358238.1:p.His17Asn
ENST00000369235.1:c.49C>A ENSP00000358238.1:p.His17Asn
NM_005267.4:c.49C>A NP_005258.2:p.His17Asn
XM_011509416.1:c.49C>A XP_011507718.1:p.His17Asn
XM_011509417.1:c.49C>A XP_011507719.1:p.His17Asn
XM_011509417.2:c.49C>A XP_011507719.1:p.His17Asn
XR_002956281.1:n.964C>A
NM_005267.5:c.49C>A MANE Select NP_005258.2:p.His17Asn