Canonical Allele Identifier: CA2575668225

Gene: SLC12A6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34235949G>T , CM000677.2:g.34235949G>T	GRCh38
NC_000015.9:g.34528150G>T , CM000677.1:g.34528150G>T	GRCh37
NC_000015.8:g.32315442G>T	NCBI36
NG_007951.1:g.107116C>A , LRG_270:g.107116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.3227+66C>A MANE Select	ENSP00000346112.3:n.3227+66C>A
ENST00000676379.1:c.3227+66C>A	ENSP00000502539.1:n.3227+66C>A
ENST00000290209.9:c.3074+66C>A	ENSP00000290209.5:n.3074+66C>A
ENST00000354181.7:c.3227+66C>A	ENSP00000346112.3:n.3227+66C>A
ENST00000397702.6:c.3050+66C>A	ENSP00000380814.2:n.3050+66C>A
ENST00000397707.6:c.3182+66C>A	ENSP00000380819.2:n.3182+66C>A
ENST00000458406.6:c.3050+66C>A	ENSP00000387725.2:n.3050+66C>A
ENST00000558589.5:c.3200+66C>A	ENSP00000452776.1:n.3200+66C>A
ENST00000558667.5:c.3227+66C>A	ENSP00000453473.1:n.3227+66C>A
ENST00000559523.5:c.*250+66C>A	ENSP00000452904.1:n.*250+66C>A
ENST00000559664.5:c.*436+66C>A	ENSP00000453702.1:n.*436+66C>A
ENST00000560164.5:c.2663+66C>A	ENSP00000452705.1:n.2663+66C>A
ENST00000560611.5:c.3227+66C>A	ENSP00000454168.1:n.3227+66C>A
ENST00000561080.5:c.*465+66C>A	ENSP00000454069.1:n.*465+66C>A
NM_001042494.1:c.3050+66C>A	NP_001035959.1:n.3050+66C>A
NM_001042495.1:c.3050+66C>A	NP_001035960.1:n.3050+66C>A
NM_001042496.1:c.3200+66C>A	NP_001035961.1:n.3200+66C>A
NM_001042497.1:c.3182+66C>A	NP_001035962.1:n.3182+66C>A
NM_005135.2:c.3074+66C>A , LRG_270t1:c.3074+66C>A	NP_005126.1:n.3074+66C>A
NM_133647.1:c.3227+66C>A , LRG_270t2:c.3227+66C>A	NP_598408.1:n.3227+66C>A
XM_006720793.2:c.3080+66C>A	XP_006720856.1:n.3080+66C>A
XM_011522267.1:c.3227+66C>A	XP_011520569.1:n.3227+66C>A
XM_011522268.1:c.3227+66C>A	XP_011520570.1:n.3227+66C>A
XR_429476.2:n.3233+66C>A
NM_001365088.1:c.3227+66C>A MANE Select	NP_001352017.1:n.3227+66C>A
XM_006720793.4:c.3080+66C>A	XP_006720856.1:n.3080+66C>A
XR_931960.3:n.4506+66C>A
NM_001042494.2:c.3050+66C>A	NP_001035959.1:n.3050+66C>A
NM_001042495.2:c.3050+66C>A	NP_001035960.1:n.3050+66C>A
NM_001042496.2:c.3200+66C>A	NP_001035961.1:n.3200+66C>A
NM_001042497.2:c.3182+66C>A	NP_001035962.1:n.3182+66C>A
NM_133647.2:c.3227+66C>A	NP_598408.1:n.3227+66C>A