Canonical Allele Identifier: CA342224315
Gene: GJA8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908355G>C , CM000663.2:g.147908355G>C GRCh38
NC_000001.10:g.147380482G>C , CM000663.1:g.147380482G>C GRCh37
NC_000001.9:g.145847106G>C NCBI36
NG_016242.1:g.10537G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.400G>C MANE Select ENSP00000358238.1:p.Gly134Arg
ENST00000369235.1:c.400G>C ENSP00000358238.1:p.Gly134Arg
NM_005267.4:c.400G>C NP_005258.2:p.Gly134Arg
XM_011509416.1:c.400G>C XP_011507718.1:p.Gly134Arg
XM_011509417.1:c.400G>C XP_011507719.1:p.Gly134Arg
XM_011509417.2:c.400G>C XP_011507719.1:p.Gly134Arg
XR_002956281.1:n.1315G>C
NM_005267.5:c.400G>C MANE Select NP_005258.2:p.Gly134Arg