Canonical Allele Identifier: CA7463906

Gene: SLC12A6

Linked Data

• dbSNP Id: rs749992788
• ExAC: 15:34528236 C / T
• gnomAD v2: 15-34528236-C-T
• gnomAD v4: 15-34236035-C-T
• MyVariant Identifiers: chr15:g.34528236C>T (hg19) ; chr15:g.34236035C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34236035C>T , CM000677.2:g.34236035C>T	GRCh38
NC_000015.9:g.34528236C>T , CM000677.1:g.34528236C>T	GRCh37
NC_000015.8:g.32315528C>T	NCBI36
NG_007951.1:g.107030G>A , LRG_270:g.107030G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.3207G>A MANE Select	ENSP00000346112.3:p.Gln1069=
ENST00000676379.1:c.3207G>A	ENSP00000502539.1:p.Gln1069=
ENST00000290209.9:c.3054G>A	ENSP00000290209.5:p.Gln1018=
ENST00000354181.7:c.3207G>A	ENSP00000346112.3:p.Gln1069=
ENST00000397702.6:c.3030G>A	ENSP00000380814.2:p.Gln1010=
ENST00000397707.6:c.3162G>A	ENSP00000380819.2:p.Gln1054=
ENST00000458406.6:c.3030G>A	ENSP00000387725.2:p.Gln1010=
ENST00000558589.5:c.3180G>A	ENSP00000452776.1:p.Gln1060=
ENST00000558667.5:c.3207G>A	ENSP00000453473.1:p.Gln1069=
ENST00000559523.5:c.*230G>A	ENSP00000452904.1:n.*230G>A
ENST00000559664.5:c.*416G>A	ENSP00000453702.1:n.*416G>A
ENST00000560164.5:c.2643G>A	ENSP00000452705.1:p.Gln881=
ENST00000560611.5:c.3207G>A	ENSP00000454168.1:p.Gln1069=
ENST00000561080.5:c.*445G>A	ENSP00000454069.1:n.*445G>A
NM_001042494.1:c.3030G>A	NP_001035959.1:p.Gln1010=
NM_001042495.1:c.3030G>A	NP_001035960.1:p.Gln1010=
NM_001042496.1:c.3180G>A	NP_001035961.1:p.Gln1060=
NM_001042497.1:c.3162G>A	NP_001035962.1:p.Gln1054=
NM_005135.2:c.3054G>A , LRG_270t1:c.3054G>A	NP_005126.1:p.Gln1018=
NM_133647.1:c.3207G>A , LRG_270t2:c.3207G>A	NP_598408.1:p.Gln1069=
XM_006720793.2:c.3060G>A	XP_006720856.1:p.Gln1020=
XM_011522267.1:c.3207G>A	XP_011520569.1:p.Gln1069=
XM_011522268.1:c.3207G>A	XP_011520570.1:p.Gln1069=
XR_429476.2:n.3213G>A
NM_001365088.1:c.3207G>A MANE Select	NP_001352017.1:p.Gln1069=
XM_006720793.4:c.3060G>A	XP_006720856.1:p.Gln1020=
XR_931960.3:n.4486G>A
NM_001042494.2:c.3030G>A	NP_001035959.1:p.Gln1010=
NM_001042495.2:c.3030G>A	NP_001035960.1:p.Gln1010=
NM_001042496.2:c.3180G>A	NP_001035961.1:p.Gln1060=
NM_001042497.2:c.3162G>A	NP_001035962.1:p.Gln1054=
NM_133647.2:c.3207G>A	NP_598408.1:p.Gln1069=