Canonical Allele Identifier: CA121507
Gene: SLC9A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 11477
ClinVar RCV Id: RCV000012232 RCV000627211
dbSNP Id: rs122461162
COSMIC: COSM3424492 COSM3424493
MyVariant Identifiers: chrX:g.135106524C>T (hg19) chrX:g.136024365C>T (hg38)
PubMed: PMID:18342287 PMID:25044251
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136024365C>T , CM000685.2:g.136024365C>T GRCh38
NC_000023.10:g.135106524C>T , CM000685.1:g.135106524C>T GRCh37
NC_000023.9:g.134934190C>T NCBI36
NG_017160.1:g.43939C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370695.8:c.1498C>T ENSP00000359729.4:p.Arg500Ter
ENST00000370701.6:c.1342C>T ENSP00000359735.1:p.Arg448Ter
ENST00000630721.3:c.1342C>T MANE Select ENSP00000487486.2:p.Arg448Ter
ENST00000636092.1:c.1342C>T ENSP00000490406.1:p.Arg448Ter
ENST00000636347.1:c.1342C>T ENSP00000490648.1:p.Arg448Ter
ENST00000636798.1:n.777C>T
ENST00000637195.1:c.1246C>T ENSP00000490330.1:p.Arg416Ter
ENST00000637234.1:c.1342C>T ENSP00000490527.1:p.Arg448Ter
ENST00000637581.1:c.1342C>T ENSP00000490731.1:p.Arg448Ter
ENST00000643775.1:n.1285C>T
ENST00000675856.1:n.1285C>T
ENST00000678163.1:c.1498C>T ENSP00000502845.1:p.Arg500Ter
ENST00000370695.6:c.1498C>T ENSP00000359729.4:p.Arg500Ter
ENST00000370698.7:c.1402C>T ENSP00000359732.3:p.Arg468Ter
ENST00000370701.5:c.1342C>T ENSP00000359735.1:p.Arg448Ter
NM_001042537.1:c.1498C>T NP_001036002.1:p.Arg500Ter
NM_001177651.1:c.1342C>T NP_001171122.1:p.Arg448Ter
NM_006359.2:c.1402C>T NP_006350.1:p.Arg468Ter
XM_006724726.2:c.1342C>T XP_006724789.1:p.Arg448Ter
XM_011531243.1:c.1246C>T XP_011529545.1:p.Arg416Ter
NM_001330652.1:c.1246C>T NP_001317581.1:p.Arg416Ter
XM_006724726.3:c.1342C>T XP_006724789.1:p.Arg448Ter
XM_017029223.2:c.1342C>T XP_016884712.1:p.Arg448Ter
XM_017029224.1:c.1342C>T XP_016884713.1:p.Arg448Ter
XM_017029225.1:c.1246C>T XP_016884714.1:p.Arg416Ter
NM_001177651.2:c.1342C>T NP_001171122.1:p.Arg448Ter
NM_001330652.2:c.1246C>T NP_001317581.1:p.Arg416Ter
NM_006359.3:c.1402C>T NP_006350.1:p.Arg468Ter
NM_001042537.2:c.1498C>T NP_001036002.1:p.Arg500Ter
NM_001379110.1:c.1342C>T MANE Select NP_001366039.1:p.Arg448Ter
NM_001400909.1:c.1342C>T NP_001387838.1:p.Arg448Ter
NM_001400910.1:c.1342C>T NP_001387839.1:p.Arg448Ter
NM_001400911.1:c.1342C>T NP_001387840.1:p.Arg448Ter
NM_001400912.1:c.1342C>T NP_001387841.1:p.Arg448Ter
NM_001400913.1:c.1246C>T NP_001387842.1:p.Arg416Ter
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