Canonical Allele Identifier: CA342223061

Gene: GJA8

Linked Data

• MyVariant Identifiers: chr1:g.147380168T>G (hg19) ; chr1:g.147908041T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908041T>G , CM000663.2:g.147908041T>G	GRCh38
NC_000001.10:g.147380168T>G , CM000663.1:g.147380168T>G	GRCh37
NC_000001.9:g.145846792T>G	NCBI36
NG_016242.1:g.10223T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.86T>G MANE Select	ENSP00000358238.1:p.Leu29Arg
ENST00000369235.1:c.86T>G	ENSP00000358238.1:p.Leu29Arg
NM_005267.4:c.86T>G	NP_005258.2:p.Leu29Arg
XM_011509416.1:c.86T>G	XP_011507718.1:p.Leu29Arg
XM_011509417.1:c.86T>G	XP_011507719.1:p.Leu29Arg
XM_011509417.2:c.86T>G	XP_011507719.1:p.Leu29Arg
XR_002956281.1:n.1001T>G
NM_005267.5:c.86T>G MANE Select	NP_005258.2:p.Leu29Arg