Canonical Allele Identifier: CA342395143

Gene: GJA5

Linked Data

• COSMIC: COSM5441011
• MyVariant Identifiers: chr1:g.147230677C>A (hg19) ; chr1:g.147758569C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758569C>A , CM000663.2:g.147758569C>A	GRCh38
NC_000001.10:g.147230677C>A , CM000663.1:g.147230677C>A	GRCh37
NC_000001.9:g.145697301C>A	NCBI36
NG_009369.2:g.19806G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.670G>T MANE Select	ENSP00000463851.1:p.Ala224Ser
ENST00000430508.1:c.670G>T	ENSP00000407645.1:p.Ala224Ser
ENST00000579774.2:c.670G>T	ENSP00000463851.1:p.Ala224Ser
ENST00000621517.1:c.670G>T	ENSP00000484552.1:p.Ala224Ser
NM_005266.6:c.670G>T	NP_005257.2:p.Ala224Ser
NM_181703.3:c.670G>T	NP_859054.1:p.Ala224Ser
XM_005272951.3:c.670G>T	XP_005273008.1:p.Ala224Ser
XM_011509415.1:c.670G>T	XP_011507717.1:p.Ala224Ser
XR_922078.1:n.434-18992C>A
XR_922079.1:n.434-18992C>A
XM_005272951.4:c.670G>T	XP_005273008.1:p.Ala224Ser
XM_017001044.1:c.670G>T	XP_016856533.1:p.Ala224Ser
XR_922079.3:n.744-18992C>A
NM_181703.4:c.670G>T MANE Select	NP_859054.1:p.Ala224Ser
NM_005266.7:c.670G>T	NP_005257.2:p.Ala224Ser