Canonical Allele Identifier: CA16041725
Gene: SLC12A6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370961
ClinVar RCV Id: RCV000411505
dbSNP Id: rs1057516898

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34257702C>T , CM000677.2:g.34257702C>T GRCh38
NC_000015.9:g.34549903C>T , CM000677.1:g.34549903C>T GRCh37
NC_000015.8:g.32337195C>T NCBI36
NG_007951.1:g.85363G>A , LRG_270:g.85363G>A

Transcript Alleles

HGVS Amino-acid change
NM_001042494.1:c.453G>A VV NP_001035959.1:p.Trp151Ter
NM_001042495.1:c.453G>A VV NP_001035960.1:p.Trp151Ter
NM_001042496.1:c.603G>A VV NP_001035961.1:p.Trp201Ter
NM_001042497.1:c.585G>A VV NP_001035962.1:p.Trp195Ter
NM_005135.2:c.477G>A , LRG_270t1:c.477G>A NP_005126.1:p.Trp159Ter
NM_133647.1:c.630G>A , LRG_270t2:c.630G>A NP_598408.1:p.Trp210Ter
XM_006720793.2:c.543+1111G>A XP_006720856.1:p.=
XM_011522267.1:c.630G>A XP_011520569.1:p.Trp210Ter
XM_011522268.1:c.630G>A XP_011520570.1:p.Trp210Ter
XM_011522269.1:c.630G>A XP_011520571.1:p.Trp210Ter
XR_429476.2:n.636G>A
XR_931960.1:n.636G>A
XR_931961.1:n.636G>A
NM_001365088.1:c.630G>A VV NP_001352017.1:p.Trp210Ter
XM_006720793.4:c.543+1111G>A XP_006720856.1:p.=
XM_011522269.3:c.630G>A XP_011520571.1:p.Trp210Ter
XR_931960.3:n.1880G>A
ENST00000290209.9:c.477G>A ENSP00000290209.5:p.Trp159Ter
ENST00000354181.7:c.630G>A ENSP00000346112.3:p.Trp210Ter
ENST00000397702.6:c.453G>A ENSP00000380814.2:p.Trp151Ter
ENST00000397707.6:c.585G>A ENSP00000380819.2:p.Trp195Ter
ENST00000458406.6:c.453G>A ENSP00000387725.2:p.Trp151Ter
ENST00000558589.5:c.603G>A ENSP00000452776.1:p.Trp201Ter
ENST00000558667.5:c.630G>A ENSP00000453473.1:p.Trp210Ter
ENST00000559523.5:c.453G>A ENSP00000452904.1:p.Trp151Ter
ENST00000559664.5:c.630G>A ENSP00000453702.1:p.Trp210Ter
ENST00000560164.5:c.126+1111G>A ENSP00000452705.1:p.=
ENST00000560332.1:c.213G>A ENSP00000454037.1:p.Trp71Ter
ENST00000560611.5:c.630G>A ENSP00000454168.1:p.Trp210Ter
ENST00000561080.5:c.630G>A ENSP00000454069.1:p.Trp210Ter