Canonical Allele Identifier: CA10607630
Gene: GJA5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 292456
ClinVar RCV Id: RCV000330907
dbSNP Id: rs11552588

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147773279T>C , CM000663.2:g.147773279T>C GRCh38
NC_000001.10:g.147245383T>C , CM000663.1:g.147245383T>C GRCh37
NC_000001.9:g.145712007T>C NCBI36
NG_009369.2:g.5096A>G

Transcript Alleles

HGVS Amino-acid change
NM_005266.6:c.-61A>G VV NP_005257.2:p.=
XM_005272951.3:c.-34+7388A>G XP_005273008.1:p.=
XM_011509415.1:c.-2206A>G XP_011507717.1:p.=
XR_922078.1:n.434-4282T>C
XR_922079.1:n.434-4282T>C
XM_005272951.4:c.-34+7388A>G XP_005273008.1:p.=
XM_017001044.1:c.-2047A>G XP_016856533.1:p.=
XR_922079.3:n.744-4282T>C
ENST00000430508.1:c.-61A>G ENSP00000407645.1:p.=
ENST00000621517.1:c.-61A>G ENSP00000484552.1:p.=