Canonical Allele Identifier: CA343227850
Community Standard Title: NM_002241.5(KCNJ10):c.385A>G (p.Ile129Val)
Gene: KCNJ10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160042148T>C , CM000663.2:g.160042148T>C GRCh38
NC_000001.10:g.160011938T>C , CM000663.1:g.160011938T>C GRCh37
NC_000001.9:g.158278562T>C NCBI36
NG_016411.1:g.33024A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002241.5:c.385A>G MANE Select NP_002232.2:p.Ile129Val
ENST00000644903.1:c.385A>G MANE Select ENSP00000495557.1:p.Ile129Val
NM_002241.4:c.385A>G NP_002232.2:p.Ile129Val
ENST00000368089.3:c.385A>G ENSP00000357068.3:p.Ile129Val
ENST00000509700.1:n.148A>G
ENST00000509700.2:c.357A>G
ENST00000636689.1:n.95-2800A>G
ENST00000637644.1:c.385A>G ENSP00000490282.1:p.Ile129Val
ENST00000638728.1:c.385A>G ENSP00000492619.1:p.Ile129Val
ENST00000638840.1:c.107A>G
ENST00000638868.1:c.385A>G ENSP00000491250.1:p.Ile129Val
ENST00000639408.1:c.385A>G ENSP00000491635.1:p.Ile129Val
ENST00000640017.1:c.355A>G ENSP00000491337.1:p.Ile119Val