Canonical Allele Identifier: CA128544
Gene: GJA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 29665
ClinVar RCV Id: RCV000022514
dbSNP Id: rs387906614

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758578G>T , CM000663.2:g.147758578G>T GRCh38
NC_000001.10:g.147230686G>T , CM000663.1:g.147230686G>T GRCh37
NC_000001.9:g.145697310G>T NCBI36
NG_009369.2:g.19797C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.661C>A MANE Select ENSP00000463851.1:p.Leu221Ile
ENST00000430508.1:c.661C>A ENSP00000407645.1:p.Leu221Ile
ENST00000579774.2:c.661C>A ENSP00000463851.1:p.Leu221Ile
ENST00000621517.1:c.661C>A ENSP00000484552.1:p.Leu221Ile
NM_005266.6:c.661C>A NP_005257.2:p.Leu221Ile
NM_181703.3:c.661C>A NP_859054.1:p.Leu221Ile
XM_005272951.3:c.661C>A XP_005273008.1:p.Leu221Ile
XM_011509415.1:c.661C>A XP_011507717.1:p.Leu221Ile
XR_922078.1:n.434-18983G>T
XR_922079.1:n.434-18983G>T
XM_005272951.4:c.661C>A XP_005273008.1:p.Leu221Ile
XM_017001044.1:c.661C>A XP_016856533.1:p.Leu221Ile
XR_922079.3:n.744-18983G>T
NM_181703.4:c.661C>A MANE Select NP_859054.1:p.Leu221Ile
NM_005266.7:c.661C>A NP_005257.2:p.Leu221Ile