Canonical Allele Identifier: CA2627635496
Gene: SLC12A6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34239179dup , CM000677.2:g.34239179dup GRCh38
NC_000015.9:g.34531380dup , CM000677.1:g.34531380dup GRCh37
NC_000015.8:g.32318672dup NCBI36
NG_007951.1:g.103887dup , LRG_270:g.103887dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354181.8:c.2437-18dup MANE Select ENSP00000346112.3:n.2437-18dup
ENST00000676379.1:c.2437-18dup ENSP00000502539.1:n.2437-18dup
ENST00000290209.9:c.2284-18dup ENSP00000290209.5:n.2284-18dup
ENST00000354181.7:c.2437-18dup ENSP00000346112.3:n.2437-18dup
ENST00000397702.6:c.2260-18dup ENSP00000380814.2:n.2260-18dup
ENST00000397707.6:c.2392-18dup ENSP00000380819.2:n.2392-18dup
ENST00000458406.6:c.2260-18dup ENSP00000387725.2:n.2260-18dup
ENST00000558589.5:c.2410-18dup ENSP00000452776.1:n.2410-18dup
ENST00000558667.5:c.2437-18dup ENSP00000453473.1:n.2437-18dup
ENST00000558950.1:n.385-18dup
ENST00000559523.5:c.2260-18dup ENSP00000452904.1:n.2260-18dup
ENST00000559664.5:c.2437-18dup ENSP00000453702.1:n.2437-18dup
ENST00000560164.5:c.1873-18dup ENSP00000452705.1:n.1873-18dup
ENST00000560611.5:c.2437-18dup ENSP00000454168.1:n.2437-18dup
ENST00000561080.5:c.2437-18dup ENSP00000454069.1:n.2437-18dup
NM_001042494.1:c.2260-18dup NP_001035959.1:n.2260-18dup
NM_001042495.1:c.2260-18dup NP_001035960.1:n.2260-18dup
NM_001042496.1:c.2410-18dup NP_001035961.1:n.2410-18dup
NM_001042497.1:c.2392-18dup NP_001035962.1:n.2392-18dup
NM_005135.2:c.2284-18dup , LRG_270t1:c.2284-18dup NP_005126.1:n.2284-18dup
NM_133647.1:c.2437-18dup , LRG_270t2:c.2437-18dup NP_598408.1:n.2437-18dup
XM_006720793.2:c.2290-18dup XP_006720856.1:n.2290-18dup
XM_011522267.1:c.2437-18dup XP_011520569.1:n.2437-18dup
XM_011522268.1:c.2437-18dup XP_011520570.1:n.2437-18dup
XR_429476.2:n.2443-18dup
XR_931960.1:n.2443-18dup
XR_931961.1:n.2444-18dup
NM_001365088.1:c.2437-18dup MANE Select NP_001352017.1:n.2437-18dup
XM_006720793.4:c.2290-18dup XP_006720856.1:n.2290-18dup
XR_931960.3:n.3687-18dup
NM_001042494.2:c.2260-18dup NP_001035959.1:n.2260-18dup
NM_001042495.2:c.2260-18dup NP_001035960.1:n.2260-18dup
NM_001042496.2:c.2410-18dup NP_001035961.1:n.2410-18dup
NM_001042497.2:c.2392-18dup NP_001035962.1:n.2392-18dup
NM_133647.2:c.2437-18dup NP_598408.1:n.2437-18dup