Canonical Allele Identifier: CA383235423
Gene: KCNJ5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128916463A>T , CM000673.2:g.128916463A>T GRCh38
NC_000011.9:g.128786358A>T , CM000673.1:g.128786358A>T GRCh37
NC_000011.8:g.128291568A>T NCBI36
NG_023406.2:g.30046A>T , LRG_333:g.30046A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.992A>T MANE Select ENSP00000433295.1:p.His331Leu
ENST00000338350.4:c.992A>T ENSP00000339960.4:p.His331Leu
ENST00000529694.5:c.992A>T ENSP00000433295.1:p.His331Leu
ENST00000533599.1:c.992A>T ENSP00000434266.1:p.His331Leu
NM_000890.3:c.992A>T , LRG_333t1:c.992A>T NP_000881.3:p.His331Leu
XM_011542809.1:c.992A>T XP_011541111.1:p.His331Leu
XM_011542810.1:c.992A>T XP_011541112.1:p.His331Leu
NM_000890.4:c.992A>T NP_000881.3:p.His331Leu
NM_001354169.1:c.992A>T NP_001341098.1:p.His331Leu
XM_011542809.2:c.992A>T XP_011541111.1:p.His331Leu
XM_011542810.3:c.992A>T XP_011541112.1:p.His331Leu
NM_000890.5:c.992A>T MANE Select NP_000881.3:p.His331Leu
NM_001354169.2:c.992A>T NP_001341098.1:p.His331Leu