Canonical Allele Identifier: CA3212167617

Gene: SLC12A6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236719G= , CM000677.2:g.34236719G=	GRCh38
NC_000015.9:g.34528920G= , CM000677.1:g.34528920G=	GRCh37
NC_000015.8:g.32316212G=	NCBI36
NG_007951.1:g.106346C= , LRG_270:g.106346C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001365088.1:c.3031C= MANE Select	NP_001352017.1:p.Arg1011=
ENST00000354181.8:c.3031C= MANE Select	ENSP00000346112.3:p.Arg1011=
NM_001042494.1:c.2854C=	NP_001035959.1:p.Arg952=
NM_001042494.2:c.2854C=	NP_001035959.1:p.Arg952=
NM_001042495.1:c.2854C=	NP_001035960.1:p.Arg952=
NM_001042495.2:c.2854C=	NP_001035960.1:p.Arg952=
NM_001042496.1:c.3004C=	NP_001035961.1:p.Arg1002=
NM_001042496.2:c.3004C=	NP_001035961.1:p.Arg1002=
NM_001042497.1:c.2986C=	NP_001035962.1:p.Arg996=
NM_001042497.2:c.2986C=	NP_001035962.1:p.Arg996=
NM_005135.2:c.2878C= , LRG_270t1:c.2878C=	NP_005126.1:p.Arg960=
NM_133647.1:c.3031C= , LRG_270t2:c.3031C=	NP_598408.1:p.Arg1011=
NM_133647.2:c.3031C=	NP_598408.1:p.Arg1011=
ENST00000290209.9:c.2878C=	ENSP00000290209.5:p.Arg960=
ENST00000354181.7:c.3031C=	ENSP00000346112.3:p.Arg1011=
ENST00000397702.6:c.2854C=	ENSP00000380814.2:p.Arg952=
ENST00000397707.6:c.2986C=	ENSP00000380819.2:p.Arg996=
ENST00000458406.6:c.2854C=	ENSP00000387725.2:p.Arg952=
ENST00000558589.5:c.3004C=	ENSP00000452776.1:p.Arg1002=
ENST00000558667.5:c.3031C=	ENSP00000453473.1:p.Arg1011=
ENST00000559523.5:c.*54C=	ENSP00000452904.1:n.*54C=
ENST00000559664.5:c.*240C=	ENSP00000453702.1:n.*240C=
ENST00000560164.5:c.2467C=	ENSP00000452705.1:p.Arg823=
ENST00000560611.5:c.3031C=	ENSP00000454168.1:p.Arg1011=
ENST00000561080.5:c.*269C=	ENSP00000454069.1:n.*269C=
ENST00000676379.1:c.3031C=	ENSP00000502539.1:p.Arg1011=
XM_006720793.2:c.2884C=	XP_006720856.1:p.Arg962=
XM_006720793.4:c.2884C=	XP_006720856.1:p.Arg962=
XM_011522267.1:c.3031C=	XP_011520569.1:p.Arg1011=
XM_011522268.1:c.3031C=	XP_011520570.1:p.Arg1011=
XR_429476.2:n.3037C=
XR_931960.1:n.3066C=
XR_931960.3:n.4310C=