Canonical Allele Identifier: CA16041717

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 370291
• ClinVar RCV Id: RCV000410487
• dbSNP Id: rs1057516378
• MyVariant Identifiers: chr15:g.34529752C>A (hg19) ; chr15:g.34237551C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34237551C>A , CM000677.2:g.34237551C>A	GRCh38
NC_000015.9:g.34529752C>A , CM000677.1:g.34529752C>A	GRCh37
NC_000015.8:g.32317044C>A	NCBI36
NG_007951.1:g.105514G>T , LRG_270:g.105514G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354181.8:c.2803-1G>T MANE Select	ENSP00000346112.3:n.2803-1G>T
ENST00000676379.1:c.2803-1G>T	ENSP00000502539.1:n.2803-1G>T
ENST00000290209.9:c.2650-1G>T	ENSP00000290209.5:n.2650-1G>T
ENST00000354181.7:c.2803-1G>T	ENSP00000346112.3:n.2803-1G>T
ENST00000397702.6:c.2626-1G>T	ENSP00000380814.2:n.2626-1G>T
ENST00000397707.6:c.2758-1G>T	ENSP00000380819.2:n.2758-1G>T
ENST00000458406.6:c.2626-1G>T	ENSP00000387725.2:n.2626-1G>T
ENST00000558589.5:c.2776-1G>T	ENSP00000452776.1:n.2776-1G>T
ENST00000558667.5:c.2803-1G>T	ENSP00000453473.1:n.2803-1G>T
ENST00000559076.1:n.166-1G>T
ENST00000559441.1:n.480-1G>T
ENST00000559523.5:c.2626-1G>T	ENSP00000452904.1:n.2626-1G>T
ENST00000559664.5:c.*12-1G>T	ENSP00000453702.1:n.*12-1G>T
ENST00000560164.5:c.2239-1G>T	ENSP00000452705.1:n.2239-1G>T
ENST00000560611.5:c.2803-1G>T	ENSP00000454168.1:n.2803-1G>T
ENST00000561080.5:c.*12-1G>T	ENSP00000454069.1:n.*12-1G>T
NM_001042494.1:c.2626-1G>T	NP_001035959.1:n.2626-1G>T
NM_001042495.1:c.2626-1G>T	NP_001035960.1:n.2626-1G>T
NM_001042496.1:c.2776-1G>T	NP_001035961.1:n.2776-1G>T
NM_001042497.1:c.2758-1G>T	NP_001035962.1:n.2758-1G>T
NM_005135.2:c.2650-1G>T , LRG_270t1:c.2650-1G>T	NP_005126.1:n.2650-1G>T
NM_133647.1:c.2803-1G>T , LRG_270t2:c.2803-1G>T	NP_598408.1:n.2803-1G>T
XM_006720793.2:c.2656-1G>T	XP_006720856.1:n.2656-1G>T
XM_011522267.1:c.2803-1G>T	XP_011520569.1:n.2803-1G>T
XM_011522268.1:c.2803-1G>T	XP_011520570.1:n.2803-1G>T
XR_429476.2:n.2809-1G>T
XR_931960.1:n.2809-1G>T
NM_001365088.1:c.2803-1G>T MANE Select	NP_001352017.1:n.2803-1G>T
XM_006720793.4:c.2656-1G>T	XP_006720856.1:n.2656-1G>T
XR_931960.3:n.4053-1G>T
NM_001042494.2:c.2626-1G>T	NP_001035959.1:n.2626-1G>T
NM_001042495.2:c.2626-1G>T	NP_001035960.1:n.2626-1G>T
NM_001042496.2:c.2776-1G>T	NP_001035961.1:n.2776-1G>T
NM_001042497.2:c.2758-1G>T	NP_001035962.1:n.2758-1G>T
NM_133647.2:c.2803-1G>T	NP_598408.1:n.2803-1G>T