Canonical Allele Identifier: CA343229453
Community Standard Title: NM_002241.5(KCNJ10):c.223T>C (p.Phe75Leu)
Gene: KCNJ10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160042310A>G , CM000663.2:g.160042310A>G GRCh38
NC_000001.10:g.160012100A>G , CM000663.1:g.160012100A>G GRCh37
NC_000001.9:g.158278724A>G NCBI36
NG_016411.1:g.32862T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002241.5:c.223T>C MANE Select NP_002232.2:p.Phe75Leu
ENST00000644903.1:c.223T>C MANE Select ENSP00000495557.1:p.Phe75Leu
NM_002241.4:c.223T>C NP_002232.2:p.Phe75Leu
ENST00000368089.3:c.223T>C ENSP00000357068.3:p.Phe75Leu
ENST00000509700.2:c.195T>C
ENST00000636689.1:n.95-2962T>C
ENST00000637644.1:c.223T>C ENSP00000490282.1:p.Phe75Leu
ENST00000638728.1:c.223T>C ENSP00000492619.1:p.Phe75Leu
ENST00000638868.1:c.223T>C ENSP00000491250.1:p.Phe75Leu
ENST00000639408.1:c.223T>C ENSP00000491635.1:p.Phe75Leu
ENST00000640017.1:c.193T>C ENSP00000491337.1:p.Phe65Leu