Canonical Allele Identifier: CA943482721
Gene: KCNJ5 HGNC NCBI

Linked Data

gnomAD v3: 11-128891480-T-A
gnomAD v4: 11-128891480-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891480T>A , CM000673.2:g.128891480T>A GRCh38
NC_000011.9:g.128761375T>A , CM000673.1:g.128761375T>A GRCh37
NC_000011.8:g.128266585T>A NCBI36
NG_023406.2:g.5063T>A , LRG_333:g.5063T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-252T>A MANE Select ENSP00000433295.1:n.-252T>A
ENST00000338350.4:c.-341T>A ENSP00000339960.4:n.-341T>A
ENST00000529694.5:c.-252T>A ENSP00000433295.1:n.-252T>A
NM_000890.3:c.-252T>A , LRG_333t1:c.-252T>A NP_000881.3:n.-252T>A
NM_000890.4:c.-252T>A NP_000881.3:n.-252T>A
NM_001354169.1:c.-341T>A NP_001341098.1:n.-341T>A
NM_000890.5:c.-252T>A MANE Select NP_000881.3:n.-252T>A
NM_001354169.2:c.-341T>A NP_001341098.1:n.-341T>A
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