Canonical Allele Identifier: CA342223566
Gene: GJA8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908173C>G , CM000663.2:g.147908173C>G GRCh38
NC_000001.10:g.147380300C>G , CM000663.1:g.147380300C>G GRCh37
NC_000001.9:g.145846924C>G NCBI36
NG_016242.1:g.10355C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.218C>G MANE Select ENSP00000358238.1:p.Ser73Cys
ENST00000369235.1:c.218C>G ENSP00000358238.1:p.Ser73Cys
NM_005267.4:c.218C>G NP_005258.2:p.Ser73Cys
XM_011509416.1:c.218C>G XP_011507718.1:p.Ser73Cys
XM_011509417.1:c.218C>G XP_011507719.1:p.Ser73Cys
XM_011509417.2:c.218C>G XP_011507719.1:p.Ser73Cys
XR_002956281.1:n.1133C>G
NM_005267.5:c.218C>G MANE Select NP_005258.2:p.Ser73Cys