Canonical Allele Identifier: CA16043686
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34336431dup , CM000677.2:g.34336431dup GRCh38
NC_000015.9:g.34628632dup , CM000677.1:g.34628632dup GRCh37
NC_000015.8:g.32415924dup NCBI36
NG_007951.1:g.6634dup , LRG_270:g.6634dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354181.8:c.250dup MANE Select ENSP00000346112.3:p.His84ProfsTer27
ENST00000675289.1:n.1032dup
ENST00000676379.1:c.250dup ENSP00000502539.1:p.His84ProfsTer27
ENST00000354181.7:c.250dup ENSP00000346112.3:p.His84ProfsTer27
ENST00000397702.6:c.73dup ENSP00000380814.2:p.His25ProfsTer27
ENST00000397707.6:c.250dup ENSP00000380819.2:p.His84ProfsTer12
ENST00000458406.6:c.73dup ENSP00000387725.2:p.His25ProfsTer27
ENST00000558589.5:c.223dup ENSP00000452776.1:p.His75ProfsTer27
ENST00000558667.5:c.250dup ENSP00000453473.1:p.His84ProfsTer27
ENST00000559236.5:c.250dup ENSP00000452828.1:p.His84ProfsTer27
ENST00000559484.1:c.73dup ENSP00000452857.1:p.His25ProfsTer27
ENST00000559523.5:c.73dup ENSP00000452904.1:p.His25ProfsTer27
ENST00000559664.5:c.250dup ENSP00000453702.1:p.His84ProfsTer27
ENST00000560611.5:c.250dup ENSP00000454168.1:p.His84ProfsTer27
ENST00000561080.5:c.250dup ENSP00000454069.1:p.His84ProfsTer27
ENST00000561120.5:c.223dup ENSP00000452771.1:p.His75ProfsTer27
NM_001042494.1:c.73dup NP_001035959.1:p.His25ProfsTer27
NM_001042495.1:c.73dup NP_001035960.1:p.His25ProfsTer27
NM_001042496.1:c.223dup NP_001035961.1:p.His75ProfsTer27
NM_001042497.1:c.250dup NP_001035962.1:p.His84ProfsTer12
NM_133647.1:c.250dup , LRG_270t2:c.250dup NP_598408.1:p.His84ProfsTer27
XM_006720793.2:c.250dup XP_006720856.1:p.His84ProfsTer27
XM_011522267.1:c.250dup XP_011520569.1:p.His84ProfsTer27
XM_011522268.1:c.250dup XP_011520570.1:p.His84ProfsTer27
XM_011522269.1:c.250dup XP_011520571.1:p.His84ProfsTer27
XR_429476.2:n.256dup
XR_931960.1:n.256dup
XR_931961.1:n.256dup
NM_001365088.1:c.250dup MANE Select NP_001352017.1:p.His84ProfsTer27
XM_006720793.4:c.250dup XP_006720856.1:p.His84ProfsTer27
XM_011522269.3:c.250dup XP_011520571.1:p.His84ProfsTer27
XR_931960.3:n.1500dup
NM_001042494.2:c.73dup NP_001035959.1:p.His25ProfsTer27
NM_001042495.2:c.73dup NP_001035960.1:p.His25ProfsTer27
NM_001042496.2:c.223dup NP_001035961.1:p.His75ProfsTer27
NM_001042497.2:c.250dup NP_001035962.1:p.His84ProfsTer12
NM_133647.2:c.250dup NP_598408.1:p.His84ProfsTer27