Canonical Allele Identifier: CA2794084730
Gene: KCNJ5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128891775G>T , CM000673.2:g.128891775G>T GRCh38
NC_000011.9:g.128761670G>T , CM000673.1:g.128761670G>T GRCh37
NC_000011.8:g.128266880G>T NCBI36
NG_023406.2:g.5358G>T , LRG_333:g.5358G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.-11+54G>T MANE Select ENSP00000433295.1:n.-11+54G>T
ENST00000338350.4:c.-100+54G>T ENSP00000339960.4:n.-100+54G>T
ENST00000529694.5:c.-11+54G>T ENSP00000433295.1:n.-11+54G>T
NM_000890.3:c.-11+54G>T , LRG_333t1:c.-11+54G>T NP_000881.3:n.-11+54G>T
NM_000890.4:c.-11+54G>T NP_000881.3:n.-11+54G>T
NM_001354169.1:c.-100+54G>T NP_001341098.1:n.-100+54G>T
NM_000890.5:c.-11+54G>T MANE Select NP_000881.3:n.-11+54G>T
NM_001354169.2:c.-100+54G>T NP_001341098.1:n.-100+54G>T