Canonical Allele Identifier: CA342396444

Gene: GJA5

Linked Data

• gnomAD v4: 1-147758838-G-A
• MyVariant Identifiers: chr1:g.147230946G>A (hg19) ; chr1:g.147758838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758838G>A , CM000663.2:g.147758838G>A	GRCh38
NC_000001.10:g.147230946G>A , CM000663.1:g.147230946G>A	GRCh37
NC_000001.9:g.145697570G>A	NCBI36
NG_009369.2:g.19537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.401C>T MANE Select	ENSP00000463851.1:p.Ser134Phe
ENST00000430508.1:c.401C>T	ENSP00000407645.1:p.Ser134Phe
ENST00000579774.2:c.401C>T	ENSP00000463851.1:p.Ser134Phe
ENST00000621517.1:c.401C>T	ENSP00000484552.1:p.Ser134Phe
NM_005266.6:c.401C>T	NP_005257.2:p.Ser134Phe
NM_181703.3:c.401C>T	NP_859054.1:p.Ser134Phe
XM_005272951.3:c.401C>T	XP_005273008.1:p.Ser134Phe
XM_011509415.1:c.401C>T	XP_011507717.1:p.Ser134Phe
XR_922078.1:n.434-18723G>A
XR_922079.1:n.434-18723G>A
XM_005272951.4:c.401C>T	XP_005273008.1:p.Ser134Phe
XM_017001044.1:c.401C>T	XP_016856533.1:p.Ser134Phe
XR_922079.3:n.744-18723G>A
NM_181703.4:c.401C>T MANE Select	NP_859054.1:p.Ser134Phe
NM_005266.7:c.401C>T	NP_005257.2:p.Ser134Phe