Canonical Allele Identifier: CA16041722
Gene: SLC12A6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370149
ClinVar RCV Id: RCV000409503
dbSNP Id: rs1057516271

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34240681C>A , CM000677.2:g.34240681C>A GRCh38
NC_000015.9:g.34532882C>A , CM000677.1:g.34532882C>A GRCh37
NC_000015.8:g.32320174C>A NCBI36
NG_007951.1:g.102384G>T , LRG_270:g.102384G>T

Transcript Alleles

HGVS Amino-acid change
NM_001042494.1:c.2239G>T VV NP_001035959.1:p.Glu747Ter
NM_001042495.1:c.2239G>T VV NP_001035960.1:p.Glu747Ter
NM_001042496.1:c.2389G>T VV NP_001035961.1:p.Glu797Ter
NM_001042497.1:c.2371G>T VV NP_001035962.1:p.Glu791Ter
NM_005135.2:c.2263G>T , LRG_270t1:c.2263G>T NP_005126.1:p.Glu755Ter
NM_133647.1:c.2416G>T , LRG_270t2:c.2416G>T NP_598408.1:p.Glu806Ter
XM_006720793.2:c.2269G>T XP_006720856.1:p.Glu757Ter
XM_011522267.1:c.2416G>T XP_011520569.1:p.Glu806Ter
XM_011522268.1:c.2416G>T XP_011520570.1:p.Glu806Ter
XR_429476.2:n.2422G>T
XR_931960.1:n.2422G>T
XR_931961.1:n.2423G>T
NM_001365088.1:c.2416G>T VV NP_001352017.1:p.Glu806Ter
XM_006720793.4:c.2269G>T XP_006720856.1:p.Glu757Ter
XR_931960.3:n.3666G>T
ENST00000290209.9:c.2263G>T ENSP00000290209.5:p.Glu755Ter
ENST00000354181.7:c.2416G>T ENSP00000346112.3:p.Glu806Ter
ENST00000397702.6:c.2239G>T ENSP00000380814.2:p.Glu747Ter
ENST00000397707.6:c.2371G>T ENSP00000380819.2:p.Glu791Ter
ENST00000458406.6:c.2239G>T ENSP00000387725.2:p.Glu747Ter
ENST00000558589.5:c.2389G>T ENSP00000452776.1:p.Glu797Ter
ENST00000558667.5:c.2416G>T ENSP00000453473.1:p.Glu806Ter
ENST00000558950.1:n.364G>T
ENST00000559523.5:c.2239G>T ENSP00000452904.1:p.Glu747Ter
ENST00000559664.5:c.2416G>T ENSP00000453702.1:p.Glu806Ter
ENST00000560164.5:c.1852G>T ENSP00000452705.1:p.Glu618Ter
ENST00000560611.5:c.2416G>T ENSP00000454168.1:p.Glu806Ter
ENST00000561080.5:c.2416G>T ENSP00000454069.1:p.Glu806Ter