Canonical Allele Identifier: CA30069048

Gene: GJA5

Linked Data

• dbSNP Id: rs375331306
• gnomAD v2: 1-147231008-C-G
• gnomAD v4: 1-147758900-C-G
• MyVariant Identifiers: chr1:g.147231008C>G (hg19) ; chr1:g.147758900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758900C>G , CM000663.2:g.147758900C>G	GRCh38
NC_000001.10:g.147231008C>G , CM000663.1:g.147231008C>G	GRCh37
NC_000001.9:g.145697632C>G	NCBI36
NG_009369.2:g.19475G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.339G>C MANE Select	ENSP00000463851.1:p.Arg113Ser
ENST00000430508.1:c.339G>C	ENSP00000407645.1:p.Arg113Ser
ENST00000579774.2:c.339G>C	ENSP00000463851.1:p.Arg113Ser
ENST00000621517.1:c.339G>C	ENSP00000484552.1:p.Arg113Ser
NM_005266.6:c.339G>C	NP_005257.2:p.Arg113Ser
NM_181703.3:c.339G>C	NP_859054.1:p.Arg113Ser
XM_005272951.3:c.339G>C	XP_005273008.1:p.Arg113Ser
XM_011509415.1:c.339G>C	XP_011507717.1:p.Arg113Ser
XR_922078.1:n.434-18661C>G
XR_922079.1:n.434-18661C>G
XM_005272951.4:c.339G>C	XP_005273008.1:p.Arg113Ser
XM_017001044.1:c.339G>C	XP_016856533.1:p.Arg113Ser
XR_922079.3:n.744-18661C>G
NM_181703.4:c.339G>C MANE Select	NP_859054.1:p.Arg113Ser
NM_005266.7:c.339G>C	NP_005257.2:p.Arg113Ser