Canonical Allele Identifier: CA342395056

Gene: GJA5

Linked Data

• COSMIC: COSM5924182
• MyVariant Identifiers: chr1:g.147230654C>T (hg19) ; chr1:g.147758546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758546C>T , CM000663.2:g.147758546C>T	GRCh38
NC_000001.10:g.147230654C>T , CM000663.1:g.147230654C>T	GRCh37
NC_000001.9:g.145697278C>T	NCBI36
NG_009369.2:g.19829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.693G>A MANE Select	ENSP00000463851.1:p.Trp231Ter
ENST00000430508.1:c.693G>A	ENSP00000407645.1:p.Trp231Ter
ENST00000579774.2:c.693G>A	ENSP00000463851.1:p.Trp231Ter
ENST00000621517.1:c.693G>A	ENSP00000484552.1:p.Trp231Ter
NM_005266.6:c.693G>A	NP_005257.2:p.Trp231Ter
NM_181703.3:c.693G>A	NP_859054.1:p.Trp231Ter
XM_005272951.3:c.693G>A	XP_005273008.1:p.Trp231Ter
XM_011509415.1:c.693G>A	XP_011507717.1:p.Trp231Ter
XR_922078.1:n.434-19015C>T
XR_922079.1:n.434-19015C>T
XM_005272951.4:c.693G>A	XP_005273008.1:p.Trp231Ter
XM_017001044.1:c.693G>A	XP_016856533.1:p.Trp231Ter
XR_922079.3:n.744-19015C>T
NM_181703.4:c.693G>A MANE Select	NP_859054.1:p.Trp231Ter
NM_005266.7:c.693G>A	NP_005257.2:p.Trp231Ter