Canonical Allele Identifier: CA1007355763

Gene: GJA5

Linked Data

• dbSNP Id: rs1663798578
• gnomAD v3: 1-147757824-A-G
• gnomAD v4: 1-147757824-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147757824A>G , CM000663.2:g.147757824A>G	GRCh38
NC_000001.10:g.147229932A>G , CM000663.1:g.147229932A>G	GRCh37
NC_000001.9:g.145696556A>G	NCBI36
NG_009369.2:g.20551T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.*338T>C MANE Select	ENSP00000463851.1:n.*338T>C
ENST00000579774.2:c.*338T>C	ENSP00000463851.1:n.*338T>C
ENST00000621517.1:c.*338T>C	ENSP00000484552.1:n.*338T>C
NM_005266.6:c.*338T>C	NP_005257.2:n.*338T>C
NM_181703.3:c.*338T>C	NP_859054.1:n.*338T>C
XM_005272951.3:c.*338T>C	XP_005273008.1:n.*338T>C
XM_011509415.1:c.*338T>C	XP_011507717.1:n.*338T>C
XR_922078.1:n.434-19737A>G
XR_922079.1:n.434-19737A>G
XM_005272951.4:c.*338T>C	XP_005273008.1:n.*338T>C
XM_017001044.1:c.*338T>C	XP_016856533.1:n.*338T>C
XR_922079.3:n.744-19737A>G
NM_181703.4:c.*338T>C MANE Select	NP_859054.1:n.*338T>C
NM_005266.7:c.*338T>C	NP_005257.2:n.*338T>C