Canonical Allele Identifier: CA342395357

Gene: GJA5

Linked Data

• dbSNP Id: rs1553226923
• gnomAD v2: 1-147230725-T-A
• gnomAD v4: 1-147758617-T-A
• MyVariant Identifiers: chr1:g.147230725T>A (hg19) ; chr1:g.147758617T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758617T>A , CM000663.2:g.147758617T>A	GRCh38
NC_000001.10:g.147230725T>A , CM000663.1:g.147230725T>A	GRCh37
NC_000001.9:g.145697349T>A	NCBI36
NG_009369.2:g.19758A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.622A>T MANE Select	ENSP00000463851.1:p.Ile208Phe
ENST00000430508.1:c.622A>T	ENSP00000407645.1:p.Ile208Phe
ENST00000579774.2:c.622A>T	ENSP00000463851.1:p.Ile208Phe
ENST00000621517.1:c.622A>T	ENSP00000484552.1:p.Ile208Phe
NM_005266.6:c.622A>T	NP_005257.2:p.Ile208Phe
NM_181703.3:c.622A>T	NP_859054.1:p.Ile208Phe
XM_005272951.3:c.622A>T	XP_005273008.1:p.Ile208Phe
XM_011509415.1:c.622A>T	XP_011507717.1:p.Ile208Phe
XR_922078.1:n.434-18944T>A
XR_922079.1:n.434-18944T>A
XM_005272951.4:c.622A>T	XP_005273008.1:p.Ile208Phe
XM_017001044.1:c.622A>T	XP_016856533.1:p.Ile208Phe
XR_922079.3:n.744-18944T>A
NM_181703.4:c.622A>T MANE Select	NP_859054.1:p.Ile208Phe
NM_005266.7:c.622A>T	NP_005257.2:p.Ile208Phe