Canonical Allele Identifier: CA30072340
Gene: GJA5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.147766499A>G
gnomAD v3:
1:147766499 A / G
gnomAD v4:
chr1-147766499-A-G
Joint Max Group AF 0.39402877 (NFE)
Genomes Max Group AF 0.39402877 (NFE)
dbSNP:
791295
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147766499A>G , CM000663.2:g.147766499A>G GRCh38
NG_009369.2:g.11876T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000430508.1:c.-34+6753T>C ENSP00000407645.1:n.-34+6753T>C
ENST00000621517.1:c.-34+6753T>C ENSP00000484552.1:n.-34+6753T>C
NM_005266.6:c.-34+6753T>C NP_005257.2:n.-34+6753T>C
XM_005272951.3:c.-33-7228T>C XP_005273008.1:n.-33-7228T>C
XM_011509415.1:c.-2178-1212T>C XP_011507717.1:n.-2178-1212T>C
XR_922078.1:n.434-11062A>G
XR_922079.1:n.434-11062A>G
XM_005272951.4:c.-33-7228T>C XP_005273008.1:n.-33-7228T>C
XM_017001044.1:c.-2019-4015T>C XP_016856533.1:n.-2019-4015T>C
XR_922079.3:n.744-11062A>G
NM_005266.7:c.-34+6753T>C NP_005257.2:n.-34+6753T>C
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