Canonical Allele Identifier: CA10607625
Gene: GJA5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.147757554G>A
GRCh37 chr1:g.147229662G>A
gnomAD v2:
1:147229662 G / A
gnomAD v3:
1:147757554 G / A
gnomAD v4:
chr1-147757554-G-A
Joint Max Group AF 0.21319124 (NFE)
Genomes Max Group AF 0.21388438 (NFE)
Exomes Max Group AF 0.191638 (NFE)
ClinVar RCV:
RCV000295375
ClinVar Variation:
292441
dbSNP:
36005900
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147757554G>A , CM000663.2:g.147757554G>A GRCh38
NC_000001.10:g.147229662G>A , CM000663.1:g.147229662G>A GRCh37
NC_000001.9:g.145696286G>A NCBI36
NG_009369.2:g.20821C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.*608C>T MANE Select ENSP00000463851.1:n.*608C>T
ENST00000579774.2:c.*608C>T ENSP00000463851.1:n.*608C>T
ENST00000621517.1:c.*608C>T ENSP00000484552.1:n.*608C>T
NM_005266.6:c.*608C>T NP_005257.2:n.*608C>T
NM_181703.3:c.*608C>T NP_859054.1:n.*608C>T
XM_005272951.3:c.*608C>T XP_005273008.1:n.*608C>T
XM_011509415.1:c.*608C>T XP_011507717.1:n.*608C>T
XR_922078.1:n.434-20007G>A
XR_922079.1:n.434-20007G>A
XM_005272951.4:c.*608C>T XP_005273008.1:n.*608C>T
XM_017001044.1:c.*608C>T XP_016856533.1:n.*608C>T
XR_922079.3:n.744-20007G>A
NM_181703.4:c.*608C>T MANE Select NP_859054.1:n.*608C>T
NM_005266.7:c.*608C>T NP_005257.2:n.*608C>T
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