Canonical Allele Identifier: CA10608024
Gene: GJA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 292457
ClinVar RCV Id: RCV002275008
dbSNP Id: rs36214923
gnomAD v2: 1-147245389-C-T
gnomAD v3: 1-147773285-C-T
gnomAD v4: 1-147773285-C-T
MyVariant Identifiers: chr1:g.147245389C>T (hg19) chr1:g.147773285C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147773285C>T , CM000663.2:g.147773285C>T GRCh38
NC_000001.10:g.147245389C>T , CM000663.1:g.147245389C>T GRCh37
NC_000001.9:g.145712013C>T NCBI36
NG_009369.2:g.5090G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000430508.1:c.-67G>A ENSP00000407645.1:n.-67G>A
ENST00000621517.1:c.-67G>A ENSP00000484552.1:n.-67G>A
NM_005266.6:c.-67G>A NP_005257.2:n.-67G>A
XM_005272951.3:c.-34+7382G>A XP_005273008.1:n.-34+7382G>A
XM_011509415.1:c.-2212G>A XP_011507717.1:n.-2212G>A
XR_922078.1:n.434-4276C>T
XR_922079.1:n.434-4276C>T
XM_005272951.4:c.-34+7382G>A XP_005273008.1:n.-34+7382G>A
XM_017001044.1:c.-2053G>A XP_016856533.1:n.-2053G>A
XR_922079.3:n.744-4276C>T
NM_005266.7:c.-67G>A NP_005257.2:n.-67G>A
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