Canonical Allele Identifier: CA1065924
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs782214202
ExAC: 1:147380437 G / A
gnomAD v2: 1-147380437-G-A
gnomAD v4: 1-147908310-G-A
MyVariant Identifiers: chr1:g.147380437G>A (hg19) chr1:g.147908310G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908310G>A , CM000663.2:g.147908310G>A GRCh38
NC_000001.10:g.147380437G>A , CM000663.1:g.147380437G>A GRCh37
NC_000001.9:g.145847061G>A NCBI36
NG_016242.1:g.10492G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.355G>A MANE Select ENSP00000358238.1:p.Gly119Arg
ENST00000369235.1:c.355G>A ENSP00000358238.1:p.Gly119Arg
NM_005267.4:c.355G>A NP_005258.2:p.Gly119Arg
XM_011509416.1:c.355G>A XP_011507718.1:p.Gly119Arg
XM_011509417.1:c.355G>A XP_011507719.1:p.Gly119Arg
XM_011509417.2:c.355G>A XP_011507719.1:p.Gly119Arg
XR_002956281.1:n.1270G>A
NM_005267.5:c.355G>A MANE Select NP_005258.2:p.Gly119Arg
Search 100 bp 5'
Search 100 bp 3'