Canonical Allele Identifier: CA1199593214
Gene: GJA5 HGNC NCBI

Linked Data

dbSNP Id: rs1664484830

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147773298A>G , CM000663.2:g.147773298A>G GRCh38
NC_000001.10:g.147245402A>G , CM000663.1:g.147245402A>G GRCh37
NC_000001.9:g.145712026A>G NCBI36
NG_009369.2:g.5077T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000430508.1:c.-80T>C ENSP00000407645.1:n.-80T>C
ENST00000621517.1:c.-80T>C ENSP00000484552.1:n.-80T>C
NM_005266.6:c.-80T>C NP_005257.2:n.-80T>C
XM_005272951.3:c.-34+7369T>C XP_005273008.1:n.-34+7369T>C
XM_011509415.1:c.-2225T>C XP_011507717.1:n.-2225T>C
XR_922078.1:n.434-4263A>G
XR_922079.1:n.434-4263A>G
XM_005272951.4:c.-34+7369T>C XP_005273008.1:n.-34+7369T>C
XM_017001044.1:c.-2066T>C XP_016856533.1:n.-2066T>C
XR_922079.3:n.744-4263A>G
NM_005266.7:c.-80T>C NP_005257.2:n.-80T>C