Canonical Allele Identifier: CA383248992
Gene: KCNJ5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128911821T>C , CM000673.2:g.128911821T>C GRCh38
NC_000011.9:g.128781716T>C , CM000673.1:g.128781716T>C GRCh37
NC_000011.8:g.128286926T>C NCBI36
NG_023406.2:g.25404T>C , LRG_333:g.25404T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.548T>C MANE Select ENSP00000433295.1:p.Val183Ala
ENST00000338350.4:c.548T>C ENSP00000339960.4:p.Val183Ala
ENST00000529694.5:c.548T>C ENSP00000433295.1:p.Val183Ala
ENST00000533599.1:c.548T>C ENSP00000434266.1:p.Val183Ala
NM_000890.3:c.548T>C , LRG_333t1:c.548T>C NP_000881.3:p.Val183Ala
XM_011542809.1:c.548T>C XP_011541111.1:p.Val183Ala
XM_011542810.1:c.548T>C XP_011541112.1:p.Val183Ala
NM_000890.4:c.548T>C NP_000881.3:p.Val183Ala
NM_001354169.1:c.548T>C NP_001341098.1:p.Val183Ala
XM_011542809.2:c.548T>C XP_011541111.1:p.Val183Ala
XM_011542810.3:c.548T>C XP_011541112.1:p.Val183Ala
NM_000890.5:c.548T>C MANE Select NP_000881.3:p.Val183Ala
NM_001354169.2:c.548T>C NP_001341098.1:p.Val183Ala