Canonical Allele Identifier: CA342393415

Gene: GJA5

Linked Data

• ClinVar Variation Id: 876006
• ClinVar RCV Id: RCV001100362
• dbSNP Id: rs1663814972
• MyVariant Identifiers: chr1:g.147230290A>C (hg19) ; chr1:g.147758182A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758182A>C , CM000663.2:g.147758182A>C	GRCh38
NC_000001.10:g.147230290A>C , CM000663.1:g.147230290A>C	GRCh37
NC_000001.9:g.145696914A>C	NCBI36
NG_009369.2:g.20193T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.1057T>G MANE Select	ENSP00000463851.1:p.Ser353Ala
ENST00000579774.2:c.1057T>G	ENSP00000463851.1:p.Ser353Ala
ENST00000621517.1:c.1057T>G	ENSP00000484552.1:p.Ser353Ala
NM_005266.6:c.1057T>G	NP_005257.2:p.Ser353Ala
NM_181703.3:c.1057T>G	NP_859054.1:p.Ser353Ala
XM_005272951.3:c.1057T>G	XP_005273008.1:p.Ser353Ala
XM_011509415.1:c.1057T>G	XP_011507717.1:p.Ser353Ala
XR_922078.1:n.434-19379A>C
XR_922079.1:n.434-19379A>C
XM_005272951.4:c.1057T>G	XP_005273008.1:p.Ser353Ala
XM_017001044.1:c.1057T>G	XP_016856533.1:p.Ser353Ala
XR_922079.3:n.744-19379A>C
NM_181703.4:c.1057T>G MANE Select	NP_859054.1:p.Ser353Ala
NM_005266.7:c.1057T>G	NP_005257.2:p.Ser353Ala