Canonical Allele Identifier: CA10635832

Gene: SLC12A6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34336513C>T , CM000677.2:g.34336513C>T	GRCh38
NC_000015.9:g.34628714C>T , CM000677.1:g.34628714C>T	GRCh37
NC_000015.8:g.32416006C>T	NCBI36
NG_007951.1:g.6552G>A , LRG_270:g.6552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.168G>A MANE Select	ENSP00000346112.3:p.Arg56=
ENST00000675289.1:n.950G>A
ENST00000676379.1:c.168G>A	ENSP00000502539.1:p.Arg56=
ENST00000354181.7:c.168G>A	ENSP00000346112.3:p.Arg56=
ENST00000397702.6:c.-10G>A	ENSP00000380814.2:n.-10G>A
ENST00000397707.6:c.168G>A	ENSP00000380819.2:p.Arg56=
ENST00000458406.6:c.-10G>A	ENSP00000387725.2:n.-10G>A
ENST00000558589.5:c.141G>A	ENSP00000452776.1:p.Arg47=
ENST00000558667.5:c.168G>A	ENSP00000453473.1:p.Arg56=
ENST00000559236.5:c.168G>A	ENSP00000452828.1:p.Arg56=
ENST00000559484.1:c.-10G>A	ENSP00000452857.1:n.-10G>A
ENST00000559523.5:c.-10G>A	ENSP00000452904.1:n.-10G>A
ENST00000559664.5:c.168G>A	ENSP00000453702.1:p.Arg56=
ENST00000560611.5:c.168G>A	ENSP00000454168.1:p.Arg56=
ENST00000561080.5:c.168G>A	ENSP00000454069.1:p.Arg56=
ENST00000561120.5:c.141G>A	ENSP00000452771.1:p.Arg47=
NM_001042494.1:c.-10G>A	NP_001035959.1:n.-10G>A
NM_001042495.1:c.-10G>A	NP_001035960.1:n.-10G>A
NM_001042496.1:c.141G>A	NP_001035961.1:p.Arg47=
NM_001042497.1:c.168G>A	NP_001035962.1:p.Arg56=
NM_133647.1:c.168G>A , LRG_270t2:c.168G>A	NP_598408.1:p.Arg56=
XM_006720793.2:c.168G>A	XP_006720856.1:p.Arg56=
XM_011522267.1:c.168G>A	XP_011520569.1:p.Arg56=
XM_011522268.1:c.168G>A	XP_011520570.1:p.Arg56=
XM_011522269.1:c.168G>A	XP_011520571.1:p.Arg56=
XR_429476.2:n.174G>A
XR_931960.1:n.174G>A
XR_931961.1:n.174G>A
NM_001365088.1:c.168G>A MANE Select	NP_001352017.1:p.Arg56=
XM_006720793.4:c.168G>A	XP_006720856.1:p.Arg56=
XM_011522269.3:c.168G>A	XP_011520571.1:p.Arg56=
XR_931960.3:n.1418G>A
NM_001042494.2:c.-10G>A	NP_001035959.1:n.-10G>A
NM_001042495.2:c.-10G>A	NP_001035960.1:n.-10G>A
NM_001042496.2:c.141G>A	NP_001035961.1:p.Arg47=
NM_001042497.2:c.168G>A	NP_001035962.1:p.Arg56=
NM_133647.2:c.168G>A	NP_598408.1:p.Arg56=