Canonical Allele Identifier: CA391620212

Gene: SLC12A6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34242120T>C , CM000677.2:g.34242120T>C	GRCh38
NC_000015.9:g.34534321T>C , CM000677.1:g.34534321T>C	GRCh37
NC_000015.8:g.32321613T>C	NCBI36
NG_007951.1:g.100945A>G , LRG_270:g.100945A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001365088.1:c.2144A>G MANE Select	NP_001352017.1:p.Lys715Arg
ENST00000354181.8:c.2144A>G MANE Select	ENSP00000346112.3:p.Lys715Arg
NM_001042494.1:c.1967A>G	NP_001035959.1:p.Lys656Arg
NM_001042494.2:c.1967A>G	NP_001035959.1:p.Lys656Arg
NM_001042495.1:c.1967A>G	NP_001035960.1:p.Lys656Arg
NM_001042495.2:c.1967A>G	NP_001035960.1:p.Lys656Arg
NM_001042496.1:c.2117A>G	NP_001035961.1:p.Lys706Arg
NM_001042496.2:c.2117A>G	NP_001035961.1:p.Lys706Arg
NM_001042497.1:c.2099A>G	NP_001035962.1:p.Lys700Arg
NM_001042497.2:c.2099A>G	NP_001035962.1:p.Lys700Arg
NM_005135.2:c.1991A>G , LRG_270t1:c.1991A>G	NP_005126.1:p.Lys664Arg
NM_133647.1:c.2144A>G , LRG_270t2:c.2144A>G	NP_598408.1:p.Lys715Arg
NM_133647.2:c.2144A>G	NP_598408.1:p.Lys715Arg
ENST00000290209.9:c.1991A>G	ENSP00000290209.5:p.Lys664Arg
ENST00000354181.7:c.2144A>G	ENSP00000346112.3:p.Lys715Arg
ENST00000397702.6:c.1967A>G	ENSP00000380814.2:p.Lys656Arg
ENST00000397707.6:c.2099A>G	ENSP00000380819.2:p.Lys700Arg
ENST00000458406.6:c.1967A>G	ENSP00000387725.2:p.Lys656Arg
ENST00000558589.5:c.2117A>G	ENSP00000452776.1:p.Lys706Arg
ENST00000558667.5:c.2144A>G	ENSP00000453473.1:p.Lys715Arg
ENST00000559523.5:c.1967A>G	ENSP00000452904.1:p.Lys656Arg
ENST00000559664.5:c.2144A>G	ENSP00000453702.1:p.Lys715Arg
ENST00000560023.1:n.257A>G
ENST00000560164.5:c.1580A>G	ENSP00000452705.1:p.Lys527Arg
ENST00000560611.5:c.2144A>G	ENSP00000454168.1:p.Lys715Arg
ENST00000561080.5:c.2144A>G	ENSP00000454069.1:p.Lys715Arg
ENST00000675289.1:n.2926A>G
ENST00000676379.1:c.2144A>G	ENSP00000502539.1:p.Lys715Arg
XM_006720793.2:c.1997A>G	XP_006720856.1:p.Lys666Arg
XM_006720793.4:c.1997A>G	XP_006720856.1:p.Lys666Arg
XM_011522267.1:c.2144A>G	XP_011520569.1:p.Lys715Arg
XM_011522268.1:c.2144A>G	XP_011520570.1:p.Lys715Arg
XM_011522269.1:c.2043-783A>G	XP_011520571.1:n.2043-783A>G
XM_011522269.3:c.2043-783A>G	XP_011520571.1:n.2043-783A>G
XR_429476.2:n.2150A>G
XR_931960.1:n.2150A>G
XR_931960.3:n.3394A>G
XR_931961.1:n.2151A>G