Canonical Allele Identifier: CA30067984

Gene: GJA5

Linked Data

• dbSNP Id: rs781806034
• gnomAD v2: 1-147229916-T-C
• gnomAD v3: 1-147757808-T-C
• gnomAD v4: 1-147757808-T-C
• MyVariant Identifiers: chr1:g.147229916T>C (hg19) ; chr1:g.147757808T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147757808T>C , CM000663.2:g.147757808T>C	GRCh38
NC_000001.10:g.147229916T>C , CM000663.1:g.147229916T>C	GRCh37
NC_000001.9:g.145696540T>C	NCBI36
NG_009369.2:g.20567A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.*354A>G MANE Select	ENSP00000463851.1:n.*354A>G
ENST00000579774.2:c.*354A>G	ENSP00000463851.1:n.*354A>G
ENST00000621517.1:c.*354A>G	ENSP00000484552.1:n.*354A>G
NM_005266.6:c.*354A>G	NP_005257.2:n.*354A>G
NM_181703.3:c.*354A>G	NP_859054.1:n.*354A>G
XM_005272951.3:c.*354A>G	XP_005273008.1:n.*354A>G
XM_011509415.1:c.*354A>G	XP_011507717.1:n.*354A>G
XR_922078.1:n.434-19753T>C
XR_922079.1:n.434-19753T>C
XM_005272951.4:c.*354A>G	XP_005273008.1:n.*354A>G
XM_017001044.1:c.*354A>G	XP_016856533.1:n.*354A>G
XR_922079.3:n.744-19753T>C
NM_181703.4:c.*354A>G MANE Select	NP_859054.1:n.*354A>G
NM_005266.7:c.*354A>G	NP_005257.2:n.*354A>G