Canonical Allele Identifier: CA2581206951

Gene: SLC12A6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34258881G= , CM000677.2:g.34258881G=	GRCh38
NC_000015.9:g.34551082G= , CM000677.1:g.34551082G=	GRCh37
NC_000015.8:g.32338374G=	NCBI36
NG_007951.1:g.84184C= , LRG_270:g.84184C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001365088.1:c.475C= MANE Select	NP_001352017.1:p.Leu159=
ENST00000354181.8:c.475C= MANE Select	ENSP00000346112.3:p.Leu159=
NM_001042494.1:c.298C=	NP_001035959.1:p.Leu100=
NM_001042494.2:c.298C=	NP_001035959.1:p.Leu100=
NM_001042495.1:c.298C=	NP_001035960.1:p.Leu100=
NM_001042495.2:c.298C=	NP_001035960.1:p.Leu100=
NM_001042496.1:c.448C=	NP_001035961.1:p.Leu150=
NM_001042496.2:c.448C=	NP_001035961.1:p.Leu150=
NM_001042497.1:c.430C=	NP_001035962.1:p.Leu144=
NM_001042497.2:c.430C=	NP_001035962.1:p.Leu144=
NM_005135.2:c.322C= , LRG_270t1:c.322C=	NP_005126.1:p.Leu108=
NM_133647.1:c.475C= , LRG_270t2:c.475C=	NP_598408.1:p.Leu159=
NM_133647.2:c.475C=	NP_598408.1:p.Leu159=
ENST00000290209.9:c.322C=	ENSP00000290209.5:p.Leu108=
ENST00000354181.7:c.475C=	ENSP00000346112.3:p.Leu159=
ENST00000397702.6:c.298C=	ENSP00000380814.2:p.Leu100=
ENST00000397707.6:c.430C=	ENSP00000380819.2:p.Leu144=
ENST00000458406.6:c.298C=	ENSP00000387725.2:p.Leu100=
ENST00000558589.5:c.448C=	ENSP00000452776.1:p.Leu150=
ENST00000558667.5:c.475C=	ENSP00000453473.1:p.Leu159=
ENST00000559523.5:c.298C=	ENSP00000452904.1:p.Leu100=
ENST00000559664.5:c.475C=	ENSP00000453702.1:p.Leu159=
ENST00000560164.5:c.58C=	ENSP00000452705.1:p.Leu20=
ENST00000560332.1:c.58C=	ENSP00000454037.1:p.Leu20=
ENST00000560611.5:c.475C=	ENSP00000454168.1:p.Leu159=
ENST00000561080.5:c.475C=	ENSP00000454069.1:p.Leu159=
ENST00000561120.5:c.448C=	ENSP00000452771.1:p.Leu150=
ENST00000675289.1:n.1257C=
ENST00000676379.1:c.475C=	ENSP00000502539.1:p.Leu159=
XM_006720793.2:c.475C=	XP_006720856.1:p.Leu159=
XM_006720793.4:c.475C=	XP_006720856.1:p.Leu159=
XM_011522267.1:c.475C=	XP_011520569.1:p.Leu159=
XM_011522268.1:c.475C=	XP_011520570.1:p.Leu159=
XM_011522269.1:c.475C=	XP_011520571.1:p.Leu159=
XM_011522269.3:c.475C=	XP_011520571.1:p.Leu159=
XR_429476.2:n.481C=
XR_931960.1:n.481C=
XR_931960.3:n.1725C=
XR_931961.1:n.481C=