Canonical Allele Identifier: CA420512697

Gene: GJA5

Linked Data

• ClinVar Variation Id: 2057375
• ClinVar RCV Id: RCV002941975
• dbSNP Id: rs1553227091
• gnomAD v2: 1-147231242-G-A
• gnomAD v4: 1-147759134-G-A
• MyVariant Identifiers: chr1:g.147231242G>A (hg19) ; chr1:g.147759134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147759134G>A , CM000663.2:g.147759134G>A	GRCh38
NC_000001.10:g.147231242G>A , CM000663.1:g.147231242G>A	GRCh37
NC_000001.9:g.145697866G>A	NCBI36
NG_009369.2:g.19241C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.105C>T MANE Select	ENSP00000463851.1:p.Leu35=
ENST00000430508.1:c.105C>T	ENSP00000407645.1:p.Leu35=
ENST00000579774.2:c.105C>T	ENSP00000463851.1:p.Leu35=
ENST00000621517.1:c.105C>T	ENSP00000484552.1:p.Leu35=
NM_005266.6:c.105C>T	NP_005257.2:p.Leu35=
NM_181703.3:c.105C>T	NP_859054.1:p.Leu35=
XM_005272951.3:c.105C>T	XP_005273008.1:p.Leu35=
XM_011509415.1:c.105C>T	XP_011507717.1:p.Leu35=
XR_922078.1:n.434-18427G>A
XR_922079.1:n.434-18427G>A
XM_005272951.4:c.105C>T	XP_005273008.1:p.Leu35=
XM_017001044.1:c.105C>T	XP_016856533.1:p.Leu35=
XR_922079.3:n.744-18427G>A
NM_181703.4:c.105C>T MANE Select	NP_859054.1:p.Leu35=
NM_005266.7:c.105C>T	NP_005257.2:p.Leu35=