Canonical Allele Identifier: CA342395162

Gene: GJA5

Linked Data

• ClinVar Variation Id: 1522710
• ClinVar RCV Id: RCV002036211
• dbSNP Id: rs1553226908
• gnomAD v2: 1-147230682-C-G
• gnomAD v4: 1-147758574-C-G
• MyVariant Identifiers: chr1:g.147230682C>G (hg19) ; chr1:g.147758574C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758574C>G , CM000663.2:g.147758574C>G	GRCh38
NC_000001.10:g.147230682C>G , CM000663.1:g.147230682C>G	GRCh37
NC_000001.9:g.145697306C>G	NCBI36
NG_009369.2:g.19801G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.665G>C MANE Select	ENSP00000463851.1:p.Ser222Thr
ENST00000430508.1:c.665G>C	ENSP00000407645.1:p.Ser222Thr
ENST00000579774.2:c.665G>C	ENSP00000463851.1:p.Ser222Thr
ENST00000621517.1:c.665G>C	ENSP00000484552.1:p.Ser222Thr
NM_005266.6:c.665G>C	NP_005257.2:p.Ser222Thr
NM_181703.3:c.665G>C	NP_859054.1:p.Ser222Thr
XM_005272951.3:c.665G>C	XP_005273008.1:p.Ser222Thr
XM_011509415.1:c.665G>C	XP_011507717.1:p.Ser222Thr
XR_922078.1:n.434-18987C>G
XR_922079.1:n.434-18987C>G
XM_005272951.4:c.665G>C	XP_005273008.1:p.Ser222Thr
XM_017001044.1:c.665G>C	XP_016856533.1:p.Ser222Thr
XR_922079.3:n.744-18987C>G
NM_181703.4:c.665G>C MANE Select	NP_859054.1:p.Ser222Thr
NM_005266.7:c.665G>C	NP_005257.2:p.Ser222Thr