Canonical Allele Identifier: CA16041713
Gene: SLC12A6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371054
ClinVar RCV Id: RCV000412065
dbSNP Id: rs1057516969

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34236014C>T , CM000677.2:g.34236014C>T GRCh38
NC_000015.8:g.32315507C>T NCBI36
NC_000015.9:g.34528215C>T , CM000677.1:g.34528215C>T GRCh37
NG_007951.1:g.107051G>A , LRG_270:g.107051G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290209.9:c.3074+1G>A ENSP00000290209.5:p.=
ENST00000354181.7:c.3227+1G>A ENSP00000346112.3:p.=
ENST00000397702.6:c.3050+1G>A ENSP00000380814.2:p.=
ENST00000397707.6:c.3182+1G>A ENSP00000380819.2:p.=
ENST00000458406.6:c.3050+1G>A ENSP00000387725.2:p.=
ENST00000558589.5:c.3200+1G>A ENSP00000452776.1:p.=
ENST00000558667.5:c.3227+1G>A ENSP00000453473.1:p.=
ENST00000559523.5:c.*250+1G>A ENSP00000452904.1:p.=
ENST00000559664.5:c.*436+1G>A ENSP00000453702.1:p.=
ENST00000560164.5:c.2663+1G>A ENSP00000452705.1:p.=
ENST00000560611.5:c.3227+1G>A ENSP00000454168.1:p.=
ENST00000561080.5:c.*465+1G>A ENSP00000454069.1:p.=
NM_001042494.1:c.3050+1G>A VV NP_001035959.1:p.=
NM_001042495.1:c.3050+1G>A VV NP_001035960.1:p.=
NM_001042496.1:c.3200+1G>A VV NP_001035961.1:p.=
NM_001042497.1:c.3182+1G>A VV NP_001035962.1:p.=
NM_005135.2:c.3074+1G>A , LRG_270t1:c.3074+1G>A NP_005126.1:p.=
NM_133647.1:c.3227+1G>A , LRG_270t2:c.3227+1G>A NP_598408.1:p.=
XM_006720793.2:c.3080+1G>A XP_006720856.1:p.=
XM_011522267.1:c.3227+1G>A XP_011520569.1:p.=
XM_011522268.1:c.3227+1G>A XP_011520570.1:p.=
XR_429476.2:n.3233+1G>A