Canonical Allele Identifier: CA526263013

Gene: GJA5

Linked Data

• dbSNP Id: rs1663859146
• gnomAD v2: 1-147230978-G-GT
• gnomAD v4: 1-147758870-G-GT
• MyVariant Identifiers: chr1:g.147230978_147230979insT (hg19) ; chr1:g.147758870_147758871insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758871dup , CM000663.2:g.147758871dup	GRCh38
NC_000001.10:g.147230979dup , CM000663.1:g.147230979dup	GRCh37
NC_000001.9:g.145697603dup	NCBI36
NG_009369.2:g.19504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.368dup MANE Select	ENSP00000463851.1:p.Tyr123Ter
ENST00000430508.1:c.368dup	ENSP00000407645.1:p.Tyr123Ter
ENST00000579774.2:c.368dup	ENSP00000463851.1:p.Tyr123Ter
ENST00000621517.1:c.368dup	ENSP00000484552.1:p.Tyr123Ter
NM_005266.6:c.368dup	NP_005257.2:p.Tyr123Ter
NM_181703.3:c.368dup	NP_859054.1:p.Tyr123Ter
XM_005272951.3:c.368dup	XP_005273008.1:p.Tyr123Ter
XM_011509415.1:c.368dup	XP_011507717.1:p.Tyr123Ter
XR_922078.1:n.434-18690dup
XR_922079.1:n.434-18690dup
XM_005272951.4:c.368dup	XP_005273008.1:p.Tyr123Ter
XM_017001044.1:c.368dup	XP_016856533.1:p.Tyr123Ter
XR_922079.3:n.744-18690dup
NM_181703.4:c.368dup MANE Select	NP_859054.1:p.Tyr123Ter
NM_005266.7:c.368dup	NP_005257.2:p.Tyr123Ter