Canonical Allele Identifier: CA342226447

Gene: GJA8

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908988G>A , CM000663.2:g.147908988G>A	GRCh38
NC_000001.10:g.147381115G>A , CM000663.1:g.147381115G>A	GRCh37
NC_000001.9:g.145847739G>A	NCBI36
NG_016242.1:g.11170G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005267.5:c.1033G>A MANE Select	NP_005258.2:p.Glu345Lys
ENST00000369235.2:c.1033G>A MANE Select	ENSP00000358238.1:p.Glu345Lys
NM_005267.4:c.1033G>A	NP_005258.2:p.Glu345Lys
ENST00000369235.1:c.1033G>A	ENSP00000358238.1:p.Glu345Lys
XM_011509416.1:c.1033G>A	XP_011507718.1:p.Glu345Lys
XM_011509417.1:c.1033G>A	XP_011507719.1:p.Glu345Lys
XM_011509417.2:c.1033G>A	XP_011507719.1:p.Glu345Lys
XR_001737732.2:n.2378-229C>T
XR_001737733.2:n.2335-229C>T
XR_001737734.2:n.1929-229C>T
XR_002956281.1:n.1948G>A
XR_922072.1:n.1317-229C>T
XR_922072.2:n.1324-229C>T
XR_922073.1:n.981-229C>T
XR_922074.1:n.2051-229C>T
XR_922074.3:n.2714-229C>T
XR_922075.1:n.938-229C>T
XR_922076.1:n.532-229C>T