Canonical Allele Identifier: CA2739278208

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 2845100
• ClinVar RCV Id: RCV003719342

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236006A>T , CM000677.2:g.34236006A>T	GRCh38
NC_000015.9:g.34528207A>T , CM000677.1:g.34528207A>T	GRCh37
NC_000015.8:g.32315499A>T	NCBI36
NG_007951.1:g.107059T>A , LRG_270:g.107059T>A

Transcript Alleles

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