Canonical Allele Identifier: CA16041720
Gene: SLC12A6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370235
ClinVar RCV Id: RCV000410684
dbSNP Id: rs1057516337

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34239162T>C , CM000677.2:g.34239162T>C GRCh38
NC_000015.9:g.34531363T>C , CM000677.1:g.34531363T>C GRCh37
NC_000015.8:g.32318655T>C NCBI36
NG_007951.1:g.103903A>G , LRG_270:g.103903A>G

Transcript Alleles

HGVS Amino-acid change
NM_001042494.1:c.2260-2A>G VV NP_001035959.1:p.=
NM_001042495.1:c.2260-2A>G VV NP_001035960.1:p.=
NM_001042496.1:c.2410-2A>G VV NP_001035961.1:p.=
NM_001042497.1:c.2392-2A>G VV NP_001035962.1:p.=
NM_005135.2:c.2284-2A>G , LRG_270t1:c.2284-2A>G NP_005126.1:p.=
NM_133647.1:c.2437-2A>G , LRG_270t2:c.2437-2A>G NP_598408.1:p.=
XM_006720793.2:c.2290-2A>G XP_006720856.1:p.=
XM_011522267.1:c.2437-2A>G XP_011520569.1:p.=
XM_011522268.1:c.2437-2A>G XP_011520570.1:p.=
XR_429476.2:n.2443-2A>G
XR_931960.1:n.2443-2A>G
XR_931961.1:n.2444-2A>G
NM_001365088.1:c.2437-2A>G VV NP_001352017.1:p.=
XM_006720793.4:c.2290-2A>G
XR_931960.3:n.3687-2A>G
ENST00000290209.9:c.2284-2A>G ENSP00000290209.5:p.=
ENST00000354181.7:c.2437-2A>G ENSP00000346112.3:p.=
ENST00000397702.6:c.2260-2A>G ENSP00000380814.2:p.=
ENST00000397707.6:c.2392-2A>G ENSP00000380819.2:p.=
ENST00000458406.6:c.2260-2A>G ENSP00000387725.2:p.=
ENST00000558589.5:c.2410-2A>G ENSP00000452776.1:p.=
ENST00000558667.5:c.2437-2A>G ENSP00000453473.1:p.=
ENST00000558950.1:n.385-2A>G
ENST00000559523.5:c.2260-2A>G ENSP00000452904.1:p.=
ENST00000559664.5:c.2437-2A>G ENSP00000453702.1:p.=
ENST00000560164.5:c.1873-2A>G ENSP00000452705.1:p.=
ENST00000560611.5:c.2437-2A>G ENSP00000454168.1:p.=
ENST00000561080.5:c.2437-2A>G ENSP00000454069.1:p.=