Canonical Allele Identifier: CA342395237

Gene: GJA5

Linked Data

• dbSNP Id: rs782522778
• gnomAD v2: 1-147230700-G-C
• MyVariant Identifiers: chr1:g.147230700G>C (hg19) ; chr1:g.147758592G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758592G>C , CM000663.2:g.147758592G>C	GRCh38
NC_000001.10:g.147230700G>C , CM000663.1:g.147230700G>C	GRCh37
NC_000001.9:g.145697324G>C	NCBI36
NG_009369.2:g.19783C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.647C>G MANE Select	ENSP00000463851.1:p.Ala216Gly
ENST00000430508.1:c.647C>G	ENSP00000407645.1:p.Ala216Gly
ENST00000579774.2:c.647C>G	ENSP00000463851.1:p.Ala216Gly
ENST00000621517.1:c.647C>G	ENSP00000484552.1:p.Ala216Gly
NM_005266.6:c.647C>G	NP_005257.2:p.Ala216Gly
NM_181703.3:c.647C>G	NP_859054.1:p.Ala216Gly
XM_005272951.3:c.647C>G	XP_005273008.1:p.Ala216Gly
XM_011509415.1:c.647C>G	XP_011507717.1:p.Ala216Gly
XR_922078.1:n.434-18969G>C
XR_922079.1:n.434-18969G>C
XM_005272951.4:c.647C>G	XP_005273008.1:p.Ala216Gly
XM_017001044.1:c.647C>G	XP_016856533.1:p.Ala216Gly
XR_922079.3:n.744-18969G>C
NM_181703.4:c.647C>G MANE Select	NP_859054.1:p.Ala216Gly
NM_005266.7:c.647C>G	NP_005257.2:p.Ala216Gly