Canonical Allele Identifier: CA336084215
Gene: SLC9A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 572609
ClinVar RCV Id: RCV000694032
dbSNP Id: rs1016216648

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.135985510G>T , CM000685.2:g.135985510G>T GRCh38
NC_000023.10:g.135067669G>T , CM000685.1:g.135067669G>T GRCh37
NC_000023.9:g.134895335G>T NCBI36
NG_017160.1:g.5084G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370695.8:c.8G>T ENSP00000359729.4:p.Arg3Leu
ENST00000370701.6:c.-57+33G>T ENSP00000359735.1:n.-57+33G>T
ENST00000630721.3:c.-57+33G>T MANE Select ENSP00000487486.2:n.-57+33G>T
ENST00000636092.1:c.-56-93G>T ENSP00000490406.1:n.-56-93G>T
ENST00000636347.1:c.-35-114G>T ENSP00000490648.1:n.-35-114G>T
ENST00000637195.1:c.-35-114G>T ENSP00000490330.1:n.-35-114G>T
ENST00000637234.1:c.-56-93G>T ENSP00000490527.1:n.-56-93G>T
ENST00000637581.1:c.-56-93G>T ENSP00000490731.1:n.-56-93G>T
ENST00000678163.1:c.8G>T ENSP00000502845.1:p.Arg3Leu
ENST00000370695.6:c.8G>T ENSP00000359729.4:p.Arg3Leu
ENST00000370698.7:c.8G>T ENSP00000359732.3:p.Arg3Leu
ENST00000370701.5:c.-57+33G>T ENSP00000359735.1:n.-57+33G>T
ENST00000627534.2:c.-57+38G>T ENSP00000486743.1:n.-57+38G>T
NM_001042537.1:c.8G>T NP_001036002.1:p.Arg3Leu
NM_001177651.1:c.-57+33G>T NP_001171122.1:n.-57+33G>T
NM_006359.2:c.8G>T NP_006350.1:p.Arg3Leu
XM_006724726.2:c.-57+38G>T XP_006724789.1:n.-57+38G>T
XM_011531243.1:c.-57+38G>T XP_011529545.1:n.-57+38G>T
NM_001330652.1:c.-57+38G>T NP_001317581.1:n.-57+38G>T
XM_006724726.3:c.-57+38G>T XP_006724789.1:n.-57+38G>T
XM_017029223.2:c.-56-93G>T XP_016884712.1:n.-56-93G>T
XM_017029224.1:c.-56-93G>T XP_016884713.1:n.-56-93G>T
XM_017029225.1:c.-57+33G>T XP_016884714.1:n.-57+33G>T
NM_001177651.2:c.-57+33G>T NP_001171122.1:n.-57+33G>T
NM_001330652.2:c.-57+38G>T NP_001317581.1:n.-57+38G>T
NM_006359.3:c.8G>T NP_006350.1:p.Arg3Leu
NM_001042537.2:c.8G>T NP_001036002.1:p.Arg3Leu
NM_001379110.1:c.-57+33G>T MANE Select NP_001366039.1:n.-57+33G>T
NM_001400909.1:c.-35-114G>T NP_001387838.1:n.-35-114G>T
NM_001400910.1:c.-56-93G>T NP_001387839.1:n.-56-93G>T
NM_001400911.1:c.-56-93G>T NP_001387840.1:n.-56-93G>T
NM_001400912.1:c.-57+38G>T NP_001387841.1:n.-57+38G>T
NM_001400913.1:c.-57+33G>T NP_001387842.1:n.-57+33G>T