Canonical Allele Identifier: CA2739278207

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 2813453
• ClinVar RCV Id: RCV003678008

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236004G>C , CM000677.2:g.34236004G>C	GRCh38
NC_000015.9:g.34528205G>C , CM000677.1:g.34528205G>C	GRCh37
NC_000015.8:g.32315497G>C	NCBI36
NG_007951.1:g.107061C>G , LRG_270:g.107061C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.3227+11C>G MANE Select	ENSP00000346112.3:n.3227+11C>G
ENST00000676379.1:c.3227+11C>G	ENSP00000502539.1:n.3227+11C>G
ENST00000290209.9:c.3074+11C>G	ENSP00000290209.5:n.3074+11C>G
ENST00000354181.7:c.3227+11C>G	ENSP00000346112.3:n.3227+11C>G
ENST00000397702.6:c.3050+11C>G	ENSP00000380814.2:n.3050+11C>G
ENST00000397707.6:c.3182+11C>G	ENSP00000380819.2:n.3182+11C>G
ENST00000458406.6:c.3050+11C>G	ENSP00000387725.2:n.3050+11C>G
ENST00000558589.5:c.3200+11C>G	ENSP00000452776.1:n.3200+11C>G
ENST00000558667.5:c.3227+11C>G	ENSP00000453473.1:n.3227+11C>G
ENST00000559523.5:c.*250+11C>G	ENSP00000452904.1:n.*250+11C>G
ENST00000559664.5:c.*436+11C>G	ENSP00000453702.1:n.*436+11C>G
ENST00000560164.5:c.2663+11C>G	ENSP00000452705.1:n.2663+11C>G
ENST00000560611.5:c.3227+11C>G	ENSP00000454168.1:n.3227+11C>G
ENST00000561080.5:c.*465+11C>G	ENSP00000454069.1:n.*465+11C>G
NM_001042494.1:c.3050+11C>G	NP_001035959.1:n.3050+11C>G
NM_001042495.1:c.3050+11C>G	NP_001035960.1:n.3050+11C>G
NM_001042496.1:c.3200+11C>G	NP_001035961.1:n.3200+11C>G
NM_001042497.1:c.3182+11C>G	NP_001035962.1:n.3182+11C>G
NM_005135.2:c.3074+11C>G , LRG_270t1:c.3074+11C>G	NP_005126.1:n.3074+11C>G
NM_133647.1:c.3227+11C>G , LRG_270t2:c.3227+11C>G	NP_598408.1:n.3227+11C>G
XM_006720793.2:c.3080+11C>G	XP_006720856.1:n.3080+11C>G
XM_011522267.1:c.3227+11C>G	XP_011520569.1:n.3227+11C>G
XM_011522268.1:c.3227+11C>G	XP_011520570.1:n.3227+11C>G
XR_429476.2:n.3233+11C>G
NM_001365088.1:c.3227+11C>G MANE Select	NP_001352017.1:n.3227+11C>G
XM_006720793.4:c.3080+11C>G	XP_006720856.1:n.3080+11C>G
XR_931960.3:n.4506+11C>G
NM_001042494.2:c.3050+11C>G	NP_001035959.1:n.3050+11C>G
NM_001042495.2:c.3050+11C>G	NP_001035960.1:n.3050+11C>G
NM_001042496.2:c.3200+11C>G	NP_001035961.1:n.3200+11C>G
NM_001042497.2:c.3182+11C>G	NP_001035962.1:n.3182+11C>G
NM_133647.2:c.3227+11C>G	NP_598408.1:n.3227+11C>G