Canonical Allele Identifier: CA6357924
Community Standard Title: NM_000890.5(KCNJ5):c.724C>T (p.Arg242Trp)
Gene: KCNJ5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128911997C>T , CM000673.2:g.128911997C>T GRCh38
NC_000011.9:g.128781892C>T , CM000673.1:g.128781892C>T GRCh37
NC_000011.8:g.128287102C>T NCBI36
NG_023406.2:g.25580C>T , LRG_333:g.25580C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000890.5:c.724C>T MANE Select NP_000881.3:p.Arg242Trp
ENST00000529694.6:c.724C>T MANE Select ENSP00000433295.1:p.Arg242Trp
NM_000890.3:c.724C>T , LRG_333t1:c.724C>T NP_000881.3:p.Arg242Trp
NM_000890.4:c.724C>T NP_000881.3:p.Arg242Trp
NM_001354169.1:c.724C>T NP_001341098.1:p.Arg242Trp
NM_001354169.2:c.724C>T NP_001341098.1:p.Arg242Trp
ENST00000338350.4:c.724C>T ENSP00000339960.4:p.Arg242Trp
ENST00000529694.5:c.724C>T ENSP00000433295.1:p.Arg242Trp
ENST00000533599.1:c.724C>T ENSP00000434266.1:p.Arg242Trp
XM_011542809.1:c.724C>T XP_011541111.1:p.Arg242Trp
XM_011542809.2:c.724C>T XP_011541111.1:p.Arg242Trp
XM_011542810.1:c.724C>T XP_011541112.1:p.Arg242Trp
XM_011542810.3:c.724C>T XP_011541112.1:p.Arg242Trp