Canonical Allele Identifier: CA518744234
Gene: SLC9A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 469637
dbSNP Id: rs1423014570

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.135998550C>T , CM000685.2:g.135998550C>T GRCh38
NC_000023.10:g.135080709C>T , CM000685.1:g.135080709C>T GRCh37
NC_000023.9:g.134908375C>T NCBI36
NG_017160.1:g.18124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370695.8:c.672C>T ENSP00000359729.4:p.Phe224=
ENST00000370701.6:c.516C>T ENSP00000359735.1:p.Phe172=
ENST00000630721.3:c.516C>T MANE Select ENSP00000487486.2:p.Phe172=
ENST00000636092.1:c.516C>T ENSP00000490406.1:p.Phe172=
ENST00000636347.1:c.516C>T ENSP00000490648.1:p.Phe172=
ENST00000637195.1:c.420C>T ENSP00000490330.1:p.Phe140=
ENST00000637234.1:c.516C>T ENSP00000490527.1:p.Phe172=
ENST00000637581.1:c.516C>T ENSP00000490731.1:p.Phe172=
ENST00000643775.1:n.459C>T
ENST00000674809.1:c.459C>T ENSP00000502455.1:p.Phe153=
ENST00000675550.1:n.457C>T
ENST00000675856.1:n.459C>T
ENST00000676043.1:c.459C>T ENSP00000501920.1:p.Phe153=
ENST00000678163.1:c.672C>T ENSP00000502845.1:p.Phe224=
ENST00000370695.6:c.672C>T ENSP00000359729.4:p.Phe224=
ENST00000370698.7:c.576C>T ENSP00000359732.3:p.Phe192=
ENST00000370701.5:c.516C>T ENSP00000359735.1:p.Phe172=
ENST00000627534.2:c.516C>T ENSP00000486743.1:p.Phe172=
NM_001042537.1:c.672C>T NP_001036002.1:p.Phe224=
NM_001177651.1:c.516C>T NP_001171122.1:p.Phe172=
NM_006359.2:c.576C>T NP_006350.1:p.Phe192=
XM_006724726.2:c.516C>T XP_006724789.1:p.Phe172=
XM_011531243.1:c.420C>T XP_011529545.1:p.Phe140=
NM_001330652.1:c.420C>T NP_001317581.1:p.Phe140=
XM_006724726.3:c.516C>T XP_006724789.1:p.Phe172=
XM_017029223.2:c.516C>T XP_016884712.1:p.Phe172=
XM_017029224.1:c.516C>T XP_016884713.1:p.Phe172=
XM_017029225.1:c.420C>T XP_016884714.1:p.Phe140=
NM_001177651.2:c.516C>T NP_001171122.1:p.Phe172=
NM_001330652.2:c.420C>T NP_001317581.1:p.Phe140=
NM_006359.3:c.576C>T NP_006350.1:p.Phe192=
NM_001042537.2:c.672C>T NP_001036002.1:p.Phe224=
NM_001379110.1:c.516C>T MANE Select NP_001366039.1:p.Phe172=
NM_001400909.1:c.516C>T NP_001387838.1:p.Phe172=
NM_001400910.1:c.516C>T NP_001387839.1:p.Phe172=
NM_001400911.1:c.516C>T NP_001387840.1:p.Phe172=
NM_001400912.1:c.516C>T NP_001387841.1:p.Phe172=
NM_001400913.1:c.420C>T NP_001387842.1:p.Phe140=