Canonical Allele Identifier: CA383235990
Community Standard Title: NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro)
Gene: KCNJ5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128916604A>C , CM000673.2:g.128916604A>C GRCh38
NC_000011.9:g.128786499A>C , CM000673.1:g.128786499A>C GRCh37
NC_000011.8:g.128291709A>C NCBI36
NG_023406.2:g.30187A>C , LRG_333:g.30187A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000890.5:c.1133A>C MANE Select NP_000881.3:p.Gln378Pro
ENST00000529694.6:c.1133A>C MANE Select ENSP00000433295.1:p.Gln378Pro
NM_000890.3:c.1133A>C , LRG_333t1:c.1133A>C NP_000881.3:p.Gln378Pro
NM_000890.4:c.1133A>C NP_000881.3:p.Gln378Pro
NM_001354169.1:c.1133A>C NP_001341098.1:p.Gln378Pro
NM_001354169.2:c.1133A>C NP_001341098.1:p.Gln378Pro
ENST00000338350.4:c.1133A>C ENSP00000339960.4:p.Gln378Pro
ENST00000529694.5:c.1133A>C ENSP00000433295.1:p.Gln378Pro
ENST00000533599.1:c.1133A>C ENSP00000434266.1:p.Gln378Pro
XM_011542809.1:c.1133A>C XP_011541111.1:p.Gln378Pro
XM_011542809.2:c.1133A>C XP_011541111.1:p.Gln378Pro
XM_011542810.1:c.1133A>C XP_011541112.1:p.Gln378Pro
XM_011542810.3:c.1133A>C XP_011541112.1:p.Gln378Pro