Canonical Allele Identifier: CA1193239
Community Standard Title: NM_002241.5(KCNJ10):c.512G>A (p.Arg171Gln)
Gene: KCNJ10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160042021C>T , CM000663.2:g.160042021C>T GRCh38
NC_000001.10:g.160011811C>T , CM000663.1:g.160011811C>T GRCh37
NC_000001.9:g.158278435C>T NCBI36
NG_016411.1:g.33151G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002241.5:c.512G>A MANE Select NP_002232.2:p.Arg171Gln
ENST00000644903.1:c.512G>A MANE Select ENSP00000495557.1:p.Arg171Gln
NM_002241.4:c.512G>A NP_002232.2:p.Arg171Gln
ENST00000368089.3:c.512G>A ENSP00000357068.3:p.Arg171Gln
ENST00000509700.1:n.275G>A
ENST00000509700.2:c.484G>A
ENST00000636689.1:n.95-2673G>A
ENST00000637644.1:c.487+25G>A ENSP00000490282.1:n.487+25G>A
ENST00000638728.1:c.512G>A ENSP00000492619.1:p.Arg171Gln
ENST00000638840.1:c.234G>A
ENST00000638868.1:c.512G>A ENSP00000491250.1:p.Arg171Gln
ENST00000639408.1:c.487+25G>A ENSP00000491635.1:n.487+25G>A
ENST00000640017.1:c.482G>A ENSP00000491337.1:p.Arg161Gln