Canonical Allele Identifier: CA30069942
Gene: GJA5 HGNC NCBI
dbSNP:
10465885
gnomAD v3:
1:147760632 T / C
gnomAD v4:
chr1-147760632-T-C
Joint Max Group AF 0.5330341 (EAS)
Genomes Max Group AF 0.5330341 (EAS)
Exomes Max Group AF 0.37427284 (NFE)
MyVariant.info:
GRCh38 chr1:g.147760632T>C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147760632T>C , CM000663.2:g.147760632T>C GRCh38
NG_009369.2:g.17743A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000430508.1:c.-33-1361A>G ENSP00000407645.1:n.-33-1361A>G
ENST00000621517.1:c.-33-1361A>G ENSP00000484552.1:n.-33-1361A>G
NM_005266.6:c.-33-1361A>G NP_005257.2:n.-33-1361A>G
XM_005272951.3:c.-33-1361A>G XP_005273008.1:n.-33-1361A>G
XM_011509415.1:c.-167A>G XP_011507717.1:n.-167A>G
XR_922078.1:n.434-16929T>C
XR_922079.1:n.434-16929T>C
XM_005272951.4:c.-33-1361A>G XP_005273008.1:n.-33-1361A>G
XM_017001044.1:c.-167A>G XP_016856533.1:n.-167A>G
XR_922079.3:n.744-16929T>C
NM_005266.7:c.-33-1361A>G NP_005257.2:n.-33-1361A>G
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