Canonical Allele Identifier: CA414606326

Gene: SLC9A6

Linked Data

• ClinVar Variation Id: 1329746
• ClinVar RCV Id: RCV001800054
• dbSNP Id: rs2148129192
• MyVariant Identifiers: chrX:g.135067665G>A (hg19) ; chrX:g.135985506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.135985506G>A , CM000685.2:g.135985506G>A	GRCh38
NC_000023.10:g.135067665G>A , CM000685.1:g.135067665G>A	GRCh37
NC_000023.9:g.134895331G>A	NCBI36
NG_017160.1:g.5080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370695.8:c.4G>A	ENSP00000359729.4:p.Ala2Thr
ENST00000370701.6:c.-57+29G>A	ENSP00000359735.1:n.-57+29G>A
ENST00000630721.3:c.-57+29G>A MANE Select	ENSP00000487486.2:n.-57+29G>A
ENST00000636092.1:c.-56-97G>A	ENSP00000490406.1:n.-56-97G>A
ENST00000636347.1:c.-35-118G>A	ENSP00000490648.1:n.-35-118G>A
ENST00000637195.1:c.-35-118G>A	ENSP00000490330.1:n.-35-118G>A
ENST00000637234.1:c.-56-97G>A	ENSP00000490527.1:n.-56-97G>A
ENST00000637581.1:c.-56-97G>A	ENSP00000490731.1:n.-56-97G>A
ENST00000678163.1:c.4G>A	ENSP00000502845.1:p.Ala2Thr
ENST00000370695.6:c.4G>A	ENSP00000359729.4:p.Ala2Thr
ENST00000370698.7:c.4G>A	ENSP00000359732.3:p.Ala2Thr
ENST00000370701.5:c.-57+29G>A	ENSP00000359735.1:n.-57+29G>A
ENST00000627534.2:c.-57+34G>A	ENSP00000486743.1:n.-57+34G>A
NM_001042537.1:c.4G>A	NP_001036002.1:p.Ala2Thr
NM_001177651.1:c.-57+29G>A	NP_001171122.1:n.-57+29G>A
NM_006359.2:c.4G>A	NP_006350.1:p.Ala2Thr
XM_006724726.2:c.-57+34G>A	XP_006724789.1:n.-57+34G>A
XM_011531243.1:c.-57+34G>A	XP_011529545.1:n.-57+34G>A
NM_001330652.1:c.-57+34G>A	NP_001317581.1:n.-57+34G>A
XM_006724726.3:c.-57+34G>A	XP_006724789.1:n.-57+34G>A
XM_017029223.2:c.-56-97G>A	XP_016884712.1:n.-56-97G>A
XM_017029224.1:c.-56-97G>A	XP_016884713.1:n.-56-97G>A
XM_017029225.1:c.-57+29G>A	XP_016884714.1:n.-57+29G>A
NM_001177651.2:c.-57+29G>A	NP_001171122.1:n.-57+29G>A
NM_001330652.2:c.-57+34G>A	NP_001317581.1:n.-57+34G>A
NM_006359.3:c.4G>A	NP_006350.1:p.Ala2Thr
NM_001042537.2:c.4G>A	NP_001036002.1:p.Ala2Thr
NM_001379110.1:c.-57+29G>A MANE Select	NP_001366039.1:n.-57+29G>A
NM_001400909.1:c.-35-118G>A	NP_001387838.1:n.-35-118G>A
NM_001400910.1:c.-56-97G>A	NP_001387839.1:n.-56-97G>A
NM_001400911.1:c.-56-97G>A	NP_001387840.1:n.-56-97G>A
NM_001400912.1:c.-57+34G>A	NP_001387841.1:n.-57+34G>A
NM_001400913.1:c.-57+29G>A	NP_001387842.1:n.-57+29G>A