Canonical Allele Identifier: CA1162036886

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794266C= , CM000663.2:g.34794266C=	GRCh38
NC_000001.10:g.35259867C= , CM000663.1:g.35259867C=	GRCh37
NC_000001.9:g.35032454C=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000342280.5:c.53C= (GJA4) MANE Select	ENSP00000343676.4:p.Ser18=
ENST00000342280.4:c.53C= (GJA4)	ENSP00000343676.4:p.Ser18=
ENST00000426886.1:c.207+61505G= (SMIM12)	ENSP00000429902.1:n.207+61505G=
ENST00000450137.1:c.53C= (GJA4)	ENSP00000409186.1:p.Ser18=
NM_002060.2:c.53C= (GJA4)	NP_002051.2:p.Ser18=
XM_005270750.1:c.53C= (GJA4)	XP_005270807.1:p.Ser18=
XR_947179.1:n.1001+4105G=
XM_005270750.2:c.53C= (GJA4)	XP_005270807.1:p.Ser18=
XM_017001043.2:c.53C= (GJA4)	XP_016856532.1:p.Ser18=
XR_001737967.1:n.1023+4105G=
NM_002060.3:c.53C= (GJA4) MANE Select	NP_002051.2:p.Ser18=