Canonical Allele Identifier: CA342395113

Gene: GJA5

Linked Data

• MyVariant Identifiers: chr1:g.147230671G>A (hg19) ; chr1:g.147758563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758563G>A , CM000663.2:g.147758563G>A	GRCh38
NC_000001.10:g.147230671G>A , CM000663.1:g.147230671G>A	GRCh37
NC_000001.9:g.145697295G>A	NCBI36
NG_009369.2:g.19812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.676C>T MANE Select	ENSP00000463851.1:p.Leu226Phe
ENST00000430508.1:c.676C>T	ENSP00000407645.1:p.Leu226Phe
ENST00000579774.2:c.676C>T	ENSP00000463851.1:p.Leu226Phe
ENST00000621517.1:c.676C>T	ENSP00000484552.1:p.Leu226Phe
NM_005266.6:c.676C>T	NP_005257.2:p.Leu226Phe
NM_181703.3:c.676C>T	NP_859054.1:p.Leu226Phe
XM_005272951.3:c.676C>T	XP_005273008.1:p.Leu226Phe
XM_011509415.1:c.676C>T	XP_011507717.1:p.Leu226Phe
XR_922078.1:n.434-18998G>A
XR_922079.1:n.434-18998G>A
XM_005272951.4:c.676C>T	XP_005273008.1:p.Leu226Phe
XM_017001044.1:c.676C>T	XP_016856533.1:p.Leu226Phe
XR_922079.3:n.744-18998G>A
NM_181703.4:c.676C>T MANE Select	NP_859054.1:p.Leu226Phe
NM_005266.7:c.676C>T	NP_005257.2:p.Leu226Phe