Canonical Allele Identifier: CA3212197232

Gene: SLC12A6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34243984A= , CM000677.2:g.34243984A=	GRCh38
NC_000015.9:g.34536185A= , CM000677.1:g.34536185A=	GRCh37
NC_000015.8:g.32323477A=	NCBI36
NG_007951.1:g.99081T= , LRG_270:g.99081T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001365088.1:c.2032T= MANE Select	NP_001352017.1:p.Tyr678=
ENST00000354181.8:c.2032T= MANE Select	ENSP00000346112.3:p.Tyr678=
NM_001042494.1:c.1855T=	NP_001035959.1:p.Tyr619=
NM_001042494.2:c.1855T=	NP_001035959.1:p.Tyr619=
NM_001042495.1:c.1855T=	NP_001035960.1:p.Tyr619=
NM_001042495.2:c.1855T=	NP_001035960.1:p.Tyr619=
NM_001042496.1:c.2005T=	NP_001035961.1:p.Tyr669=
NM_001042496.2:c.2005T=	NP_001035961.1:p.Tyr669=
NM_001042497.1:c.1987T=	NP_001035962.1:p.Tyr663=
NM_001042497.2:c.1987T=	NP_001035962.1:p.Tyr663=
NM_005135.2:c.1879T= , LRG_270t1:c.1879T=	NP_005126.1:p.Tyr627=
NM_133647.1:c.2032T= , LRG_270t2:c.2032T=	NP_598408.1:p.Tyr678=
NM_133647.2:c.2032T=	NP_598408.1:p.Tyr678=
ENST00000290209.9:c.1879T=	ENSP00000290209.5:p.Tyr627=
ENST00000354181.7:c.2032T=	ENSP00000346112.3:p.Tyr678=
ENST00000397702.6:c.1855T=	ENSP00000380814.2:p.Tyr619=
ENST00000397707.6:c.1987T=	ENSP00000380819.2:p.Tyr663=
ENST00000458406.6:c.1855T=	ENSP00000387725.2:p.Tyr619=
ENST00000558589.5:c.2005T=	ENSP00000452776.1:p.Tyr669=
ENST00000558667.5:c.2032T=	ENSP00000453473.1:p.Tyr678=
ENST00000559523.5:c.1855T=	ENSP00000452904.1:p.Tyr619=
ENST00000559664.5:c.2032T=	ENSP00000453702.1:p.Tyr678=
ENST00000560023.1:n.145T=
ENST00000560164.5:c.1468T=	ENSP00000452705.1:p.Tyr490=
ENST00000560611.5:c.2032T=	ENSP00000454168.1:p.Tyr678=
ENST00000561080.5:c.2032T=	ENSP00000454069.1:p.Tyr678=
ENST00000675289.1:n.2814T=
ENST00000676379.1:c.2032T=	ENSP00000502539.1:p.Tyr678=
XM_006720793.2:c.1885T=	XP_006720856.1:p.Tyr629=
XM_006720793.4:c.1885T=	XP_006720856.1:p.Tyr629=
XM_011522267.1:c.2032T=	XP_011520569.1:p.Tyr678=
XM_011522268.1:c.2032T=	XP_011520570.1:p.Tyr678=
XM_011522269.1:c.2032T=	XP_011520571.1:p.Tyr678=
XM_011522269.3:c.2032T=	XP_011520571.1:p.Tyr678=
XR_429476.2:n.2038T=
XR_931960.1:n.2038T=
XR_931960.3:n.3282T=
XR_931961.1:n.2039T=