Canonical Allele Identifier: CA1065939
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs782185896
ExAC: 1:147380482 G / T
gnomAD v2: 1-147380482-G-T
gnomAD v4: 1-147908355-G-T
MyVariant Identifiers: chr1:g.147380482G>T (hg19) chr1:g.147908355G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908355G>T , CM000663.2:g.147908355G>T GRCh38
NC_000001.10:g.147380482G>T , CM000663.1:g.147380482G>T GRCh37
NC_000001.9:g.145847106G>T NCBI36
NG_016242.1:g.10537G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.400G>T MANE Select ENSP00000358238.1:p.Gly134Cys
ENST00000369235.1:c.400G>T ENSP00000358238.1:p.Gly134Cys
NM_005267.4:c.400G>T NP_005258.2:p.Gly134Cys
XM_011509416.1:c.400G>T XP_011507718.1:p.Gly134Cys
XM_011509417.1:c.400G>T XP_011507719.1:p.Gly134Cys
XM_011509417.2:c.400G>T XP_011507719.1:p.Gly134Cys
XR_002956281.1:n.1315G>T
NM_005267.5:c.400G>T MANE Select NP_005258.2:p.Gly134Cys
Search 100 bp 5'
Search 100 bp 3'