Canonical Allele Identifier: CA383251249

Gene: KCNJ5

Linked Data

• MyVariant Identifiers: chr11:g.128782016A>C (hg19) ; chr11:g.128912121A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128912121A>C , CM000673.2:g.128912121A>C	GRCh38
NC_000011.9:g.128782016A>C , CM000673.1:g.128782016A>C	GRCh37
NC_000011.8:g.128287226A>C	NCBI36
NG_023406.2:g.25704A>C , LRG_333:g.25704A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.848A>C MANE Select	ENSP00000433295.1:p.Lys283Thr
ENST00000338350.4:c.848A>C	ENSP00000339960.4:p.Lys283Thr
ENST00000529694.5:c.848A>C	ENSP00000433295.1:p.Lys283Thr
ENST00000533599.1:c.848A>C	ENSP00000434266.1:p.Lys283Thr
NM_000890.3:c.848A>C , LRG_333t1:c.848A>C	NP_000881.3:p.Lys283Thr
XM_011542809.1:c.848A>C	XP_011541111.1:p.Lys283Thr
XM_011542810.1:c.848A>C	XP_011541112.1:p.Lys283Thr
NM_000890.4:c.848A>C	NP_000881.3:p.Lys283Thr
NM_001354169.1:c.848A>C	NP_001341098.1:p.Lys283Thr
XM_011542809.2:c.848A>C	XP_011541111.1:p.Lys283Thr
XM_011542810.3:c.848A>C	XP_011541112.1:p.Lys283Thr
NM_000890.5:c.848A>C MANE Select	NP_000881.3:p.Lys283Thr
NM_001354169.2:c.848A>C	NP_001341098.1:p.Lys283Thr