Canonical Allele Identifier: CA7463902

Gene: SLC12A6

Linked Data

• dbSNP Id: rs767931115
• ExAC: 15:34528219 C / A
• gnomAD v2: 15-34528219-C-A
• gnomAD v4: 15-34236018-C-A
• MyVariant Identifiers: chr15:g.34528219C>A (hg19) ; chr15:g.34236018C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236018C>A , CM000677.2:g.34236018C>A	GRCh38
NC_000015.9:g.34528219C>A , CM000677.1:g.34528219C>A	GRCh37
NC_000015.8:g.32315511C>A	NCBI36
NG_007951.1:g.107047G>T , LRG_270:g.107047G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.3224G>T MANE Select	ENSP00000346112.3:p.Arg1075Leu
ENST00000676379.1:c.3224G>T	ENSP00000502539.1:p.Arg1075Leu
ENST00000290209.9:c.3071G>T	ENSP00000290209.5:p.Arg1024Leu
ENST00000354181.7:c.3224G>T	ENSP00000346112.3:p.Arg1075Leu
ENST00000397702.6:c.3047G>T	ENSP00000380814.2:p.Arg1016Leu
ENST00000397707.6:c.3179G>T	ENSP00000380819.2:p.Arg1060Leu
ENST00000458406.6:c.3047G>T	ENSP00000387725.2:p.Arg1016Leu
ENST00000558589.5:c.3197G>T	ENSP00000452776.1:p.Arg1066Leu
ENST00000558667.5:c.3224G>T	ENSP00000453473.1:p.Arg1075Leu
ENST00000559523.5:c.*247G>T	ENSP00000452904.1:n.*247G>T
ENST00000559664.5:c.*433G>T	ENSP00000453702.1:n.*433G>T
ENST00000560164.5:c.2660G>T	ENSP00000452705.1:p.Arg887Leu
ENST00000560611.5:c.3224G>T	ENSP00000454168.1:p.Arg1075Leu
ENST00000561080.5:c.*462G>T	ENSP00000454069.1:n.*462G>T
NM_001042494.1:c.3047G>T	NP_001035959.1:p.Arg1016Leu
NM_001042495.1:c.3047G>T	NP_001035960.1:p.Arg1016Leu
NM_001042496.1:c.3197G>T	NP_001035961.1:p.Arg1066Leu
NM_001042497.1:c.3179G>T	NP_001035962.1:p.Arg1060Leu
NM_005135.2:c.3071G>T , LRG_270t1:c.3071G>T	NP_005126.1:p.Arg1024Leu
NM_133647.1:c.3224G>T , LRG_270t2:c.3224G>T	NP_598408.1:p.Arg1075Leu
XM_006720793.2:c.3077G>T	XP_006720856.1:p.Arg1026Leu
XM_011522267.1:c.3224G>T	XP_011520569.1:p.Arg1075Leu
XM_011522268.1:c.3224G>T	XP_011520570.1:p.Arg1075Leu
XR_429476.2:n.3230G>T
NM_001365088.1:c.3224G>T MANE Select	NP_001352017.1:p.Arg1075Leu
XM_006720793.4:c.3077G>T	XP_006720856.1:p.Arg1026Leu
XR_931960.3:n.4503G>T
NM_001042494.2:c.3047G>T	NP_001035959.1:p.Arg1016Leu
NM_001042495.2:c.3047G>T	NP_001035960.1:p.Arg1016Leu
NM_001042496.2:c.3197G>T	NP_001035961.1:p.Arg1066Leu
NM_001042497.2:c.3179G>T	NP_001035962.1:p.Arg1060Leu
NM_133647.2:c.3224G>T	NP_598408.1:p.Arg1075Leu