Canonical Allele Identifier: CA391612941

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 2678759
• ClinVar RCV Id: RCV003472750
• MyVariant Identifiers: chr15:g.34549944G>A (hg19) ; chr15:g.34257743G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257743G>A , CM000677.2:g.34257743G>A	GRCh38
NC_000015.9:g.34549944G>A , CM000677.1:g.34549944G>A	GRCh37
NC_000015.8:g.32337236G>A	NCBI36
NG_007951.1:g.85322C>T , LRG_270:g.85322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.589C>T MANE Select	ENSP00000346112.3:p.Gln197Ter
ENST00000675289.1:n.1371C>T
ENST00000676379.1:c.589C>T	ENSP00000502539.1:p.Gln197Ter
ENST00000290209.9:c.436C>T	ENSP00000290209.5:p.Gln146Ter
ENST00000354181.7:c.589C>T	ENSP00000346112.3:p.Gln197Ter
ENST00000397702.6:c.412C>T	ENSP00000380814.2:p.Gln138Ter
ENST00000397707.6:c.544C>T	ENSP00000380819.2:p.Gln182Ter
ENST00000458406.6:c.412C>T	ENSP00000387725.2:p.Gln138Ter
ENST00000558589.5:c.562C>T	ENSP00000452776.1:p.Gln188Ter
ENST00000558667.5:c.589C>T	ENSP00000453473.1:p.Gln197Ter
ENST00000559523.5:c.412C>T	ENSP00000452904.1:p.Gln138Ter
ENST00000559664.5:c.589C>T	ENSP00000453702.1:p.Gln197Ter
ENST00000560164.5:c.126+1070C>T	ENSP00000452705.1:n.126+1070C>T
ENST00000560332.1:c.172C>T	ENSP00000454037.1:p.Gln58Ter
ENST00000560611.5:c.589C>T	ENSP00000454168.1:p.Gln197Ter
ENST00000561080.5:c.589C>T	ENSP00000454069.1:p.Gln197Ter
NM_001042494.1:c.412C>T	NP_001035959.1:p.Gln138Ter
NM_001042495.1:c.412C>T	NP_001035960.1:p.Gln138Ter
NM_001042496.1:c.562C>T	NP_001035961.1:p.Gln188Ter
NM_001042497.1:c.544C>T	NP_001035962.1:p.Gln182Ter
NM_005135.2:c.436C>T , LRG_270t1:c.436C>T	NP_005126.1:p.Gln146Ter
NM_133647.1:c.589C>T , LRG_270t2:c.589C>T	NP_598408.1:p.Gln197Ter
XM_006720793.2:c.543+1070C>T	XP_006720856.1:n.543+1070C>T
XM_011522267.1:c.589C>T	XP_011520569.1:p.Gln197Ter
XM_011522268.1:c.589C>T	XP_011520570.1:p.Gln197Ter
XM_011522269.1:c.589C>T	XP_011520571.1:p.Gln197Ter
XR_429476.2:n.595C>T
XR_931960.1:n.595C>T
XR_931961.1:n.595C>T
NM_001365088.1:c.589C>T MANE Select	NP_001352017.1:p.Gln197Ter
XM_006720793.4:c.543+1070C>T	XP_006720856.1:n.543+1070C>T
XM_011522269.3:c.589C>T	XP_011520571.1:p.Gln197Ter
XR_931960.3:n.1839C>T
NM_001042494.2:c.412C>T	NP_001035959.1:p.Gln138Ter
NM_001042495.2:c.412C>T	NP_001035960.1:p.Gln138Ter
NM_001042496.2:c.562C>T	NP_001035961.1:p.Gln188Ter
NM_001042497.2:c.544C>T	NP_001035962.1:p.Gln182Ter
NM_133647.2:c.589C>T	NP_598408.1:p.Gln197Ter