Canonical Allele Identifier: CA245318

Gene: SLC9A6

Linked Data

• ClinVar Variation Id: 197277
• ClinVar RCV Id: RCV000178269
• dbSNP Id: rs797044736
• MyVariant Identifiers: chrX:g.135080647T>G (hg19) ; chrX:g.135998488T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.135998488T>G , CM000685.2:g.135998488T>G	GRCh38
NC_000023.10:g.135080647T>G , CM000685.1:g.135080647T>G	GRCh37
NC_000023.9:g.134908313T>G	NCBI36
NG_017160.1:g.18062T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370695.8:c.610T>G	ENSP00000359729.4:p.Phe204Val
ENST00000370701.6:c.454T>G	ENSP00000359735.1:p.Phe152Val
ENST00000630721.3:c.454T>G MANE Select	ENSP00000487486.2:p.Phe152Val
ENST00000636092.1:c.454T>G	ENSP00000490406.1:p.Phe152Val
ENST00000636347.1:c.454T>G	ENSP00000490648.1:p.Phe152Val
ENST00000637195.1:c.358T>G	ENSP00000490330.1:p.Phe120Val
ENST00000637234.1:c.454T>G	ENSP00000490527.1:p.Phe152Val
ENST00000637581.1:c.454T>G	ENSP00000490731.1:p.Phe152Val
ENST00000643775.1:n.397T>G
ENST00000674809.1:c.397T>G	ENSP00000502455.1:p.Phe133Val
ENST00000675550.1:n.395T>G
ENST00000675856.1:n.397T>G
ENST00000676043.1:c.397T>G	ENSP00000501920.1:p.Phe133Val
ENST00000678163.1:c.610T>G	ENSP00000502845.1:p.Phe204Val
ENST00000370695.6:c.610T>G	ENSP00000359729.4:p.Phe204Val
ENST00000370698.7:c.514T>G	ENSP00000359732.3:p.Phe172Val
ENST00000370701.5:c.454T>G	ENSP00000359735.1:p.Phe152Val
ENST00000627534.2:c.454T>G	ENSP00000486743.1:p.Phe152Val
NM_001042537.1:c.610T>G	NP_001036002.1:p.Phe204Val
NM_001177651.1:c.454T>G	NP_001171122.1:p.Phe152Val
NM_006359.2:c.514T>G	NP_006350.1:p.Phe172Val
XM_006724726.2:c.454T>G	XP_006724789.1:p.Phe152Val
XM_011531243.1:c.358T>G	XP_011529545.1:p.Phe120Val
NM_001330652.1:c.358T>G	NP_001317581.1:p.Phe120Val
XM_006724726.3:c.454T>G	XP_006724789.1:p.Phe152Val
XM_017029223.2:c.454T>G	XP_016884712.1:p.Phe152Val
XM_017029224.1:c.454T>G	XP_016884713.1:p.Phe152Val
XM_017029225.1:c.358T>G	XP_016884714.1:p.Phe120Val
NM_001177651.2:c.454T>G	NP_001171122.1:p.Phe152Val
NM_001330652.2:c.358T>G	NP_001317581.1:p.Phe120Val
NM_006359.3:c.514T>G	NP_006350.1:p.Phe172Val
NM_001042537.2:c.610T>G	NP_001036002.1:p.Phe204Val
NM_001379110.1:c.454T>G MANE Select	NP_001366039.1:p.Phe152Val
NM_001400909.1:c.454T>G	NP_001387838.1:p.Phe152Val
NM_001400910.1:c.454T>G	NP_001387839.1:p.Phe152Val
NM_001400911.1:c.454T>G	NP_001387840.1:p.Phe152Val
NM_001400912.1:c.454T>G	NP_001387841.1:p.Phe152Val
NM_001400913.1:c.358T>G	NP_001387842.1:p.Phe120Val