Canonical Allele Identifier: CA342223092
Gene: GJA8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908048C>G , CM000663.2:g.147908048C>G GRCh38
NC_000001.10:g.147380175C>G , CM000663.1:g.147380175C>G GRCh37
NC_000001.9:g.145846799C>G NCBI36
NG_016242.1:g.10230C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.93C>G MANE Select ENSP00000358238.1:p.Ile31Met
ENST00000369235.1:c.93C>G ENSP00000358238.1:p.Ile31Met
NM_005267.4:c.93C>G NP_005258.2:p.Ile31Met
XM_011509416.1:c.93C>G XP_011507718.1:p.Ile31Met
XM_011509417.1:c.93C>G XP_011507719.1:p.Ile31Met
XM_011509417.2:c.93C>G XP_011507719.1:p.Ile31Met
XR_002956281.1:n.1008C>G
NM_005267.5:c.93C>G MANE Select NP_005258.2:p.Ile31Met