Canonical Allele Identifier: CA342397360

Gene: GJA5

Linked Data

• ClinVar Variation Id: 1719219
• ClinVar RCV Id: RCV002301979
• MyVariant Identifiers: chr1:g.147231081G>C (hg19) ; chr1:g.147758973G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758973G>C , CM000663.2:g.147758973G>C	GRCh38
NC_000001.10:g.147231081G>C , CM000663.1:g.147231081G>C	GRCh37
NC_000001.9:g.145697705G>C	NCBI36
NG_009369.2:g.19402C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.266C>G MANE Select	ENSP00000463851.1:p.Ser89Cys
ENST00000430508.1:c.266C>G	ENSP00000407645.1:p.Ser89Cys
ENST00000579774.2:c.266C>G	ENSP00000463851.1:p.Ser89Cys
ENST00000621517.1:c.266C>G	ENSP00000484552.1:p.Ser89Cys
NM_005266.6:c.266C>G	NP_005257.2:p.Ser89Cys
NM_181703.3:c.266C>G	NP_859054.1:p.Ser89Cys
XM_005272951.3:c.266C>G	XP_005273008.1:p.Ser89Cys
XM_011509415.1:c.266C>G	XP_011507717.1:p.Ser89Cys
XR_922078.1:n.434-18588G>C
XR_922079.1:n.434-18588G>C
XM_005272951.4:c.266C>G	XP_005273008.1:p.Ser89Cys
XM_017001044.1:c.266C>G	XP_016856533.1:p.Ser89Cys
XR_922079.3:n.744-18588G>C
NM_181703.4:c.266C>G MANE Select	NP_859054.1:p.Ser89Cys
NM_005266.7:c.266C>G	NP_005257.2:p.Ser89Cys