Canonical Allele Identifier: CA2647661187

Gene: GJA5

Linked Data

• gnomAD v4: 1-147773283-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147773283T>C , CM000663.2:g.147773283T>C	GRCh38
NC_000001.10:g.147245387T>C , CM000663.1:g.147245387T>C	GRCh37
NC_000001.9:g.145712011T>C	NCBI36
NG_009369.2:g.5092A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000430508.1:c.-65A>G	ENSP00000407645.1:n.-65A>G
ENST00000621517.1:c.-65A>G	ENSP00000484552.1:n.-65A>G
NM_005266.6:c.-65A>G	NP_005257.2:n.-65A>G
XM_005272951.3:c.-34+7384A>G	XP_005273008.1:n.-34+7384A>G
XM_011509415.1:c.-2210A>G	XP_011507717.1:n.-2210A>G
XR_922078.1:n.434-4278T>C
XR_922079.1:n.434-4278T>C
XM_005272951.4:c.-34+7384A>G	XP_005273008.1:n.-34+7384A>G
XM_017001044.1:c.-2051A>G	XP_016856533.1:n.-2051A>G
XR_922079.3:n.744-4278T>C
NM_005266.7:c.-65A>G	NP_005257.2:n.-65A>G