Canonical Allele Identifier: CA414752906

Gene: SLC9A6

Linked Data

• ClinVar Variation Id: 1700560
• ClinVar RCV Id: RCV002274809
• dbSNP Id: rs2148179151
• MyVariant Identifiers: chrX:g.135098873T>C (hg19) ; chrX:g.136016714T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136016714T>C , CM000685.2:g.136016714T>C	GRCh38
NC_000023.10:g.135098873T>C , CM000685.1:g.135098873T>C	GRCh37
NC_000023.9:g.134926539T>C	NCBI36
NG_017160.1:g.36288T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370695.8:c.1306T>C	ENSP00000359729.4:p.Phe436Leu
ENST00000370701.6:c.1150T>C	ENSP00000359735.1:p.Phe384Leu
ENST00000630721.3:c.1150T>C MANE Select	ENSP00000487486.2:p.Phe384Leu
ENST00000636092.1:c.1150T>C	ENSP00000490406.1:p.Phe384Leu
ENST00000636347.1:c.1150T>C	ENSP00000490648.1:p.Phe384Leu
ENST00000636798.1:n.585T>C
ENST00000637195.1:c.1054T>C	ENSP00000490330.1:p.Phe352Leu
ENST00000637234.1:c.1150T>C	ENSP00000490527.1:p.Phe384Leu
ENST00000637581.1:c.1150T>C	ENSP00000490731.1:p.Phe384Leu
ENST00000643775.1:n.1093T>C
ENST00000675856.1:n.1093T>C
ENST00000678163.1:c.1306T>C	ENSP00000502845.1:p.Phe436Leu
ENST00000370695.6:c.1306T>C	ENSP00000359729.4:p.Phe436Leu
ENST00000370698.7:c.1210T>C	ENSP00000359732.3:p.Phe404Leu
ENST00000370701.5:c.1150T>C	ENSP00000359735.1:p.Phe384Leu
NM_001042537.1:c.1306T>C	NP_001036002.1:p.Phe436Leu
NM_001177651.1:c.1150T>C	NP_001171122.1:p.Phe384Leu
NM_006359.2:c.1210T>C	NP_006350.1:p.Phe404Leu
XM_006724726.2:c.1150T>C	XP_006724789.1:p.Phe384Leu
XM_011531243.1:c.1054T>C	XP_011529545.1:p.Phe352Leu
NM_001330652.1:c.1054T>C	NP_001317581.1:p.Phe352Leu
XM_006724726.3:c.1150T>C	XP_006724789.1:p.Phe384Leu
XM_017029223.2:c.1150T>C	XP_016884712.1:p.Phe384Leu
XM_017029224.1:c.1150T>C	XP_016884713.1:p.Phe384Leu
XM_017029225.1:c.1054T>C	XP_016884714.1:p.Phe352Leu
NM_001177651.2:c.1150T>C	NP_001171122.1:p.Phe384Leu
NM_001330652.2:c.1054T>C	NP_001317581.1:p.Phe352Leu
NM_006359.3:c.1210T>C	NP_006350.1:p.Phe404Leu
NM_001042537.2:c.1306T>C	NP_001036002.1:p.Phe436Leu
NM_001379110.1:c.1150T>C MANE Select	NP_001366039.1:p.Phe384Leu
NM_001400909.1:c.1150T>C	NP_001387838.1:p.Phe384Leu
NM_001400910.1:c.1150T>C	NP_001387839.1:p.Phe384Leu
NM_001400911.1:c.1150T>C	NP_001387840.1:p.Phe384Leu
NM_001400912.1:c.1150T>C	NP_001387841.1:p.Phe384Leu
NM_001400913.1:c.1054T>C	NP_001387842.1:p.Phe352Leu