Canonical Allele Identifier: CA414750168
Community Standard Title: NM_001379110.1(SLC9A6):c.574G>T (p.Ala192Ser)
Gene: SLC9A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.135998905G>T , CM000685.2:g.135998905G>T GRCh38
NC_000023.10:g.135081064G>T , CM000685.1:g.135081064G>T GRCh37
NC_000023.9:g.134908730G>T NCBI36
NG_017160.1:g.18479G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001379110.1:c.574G>T MANE Select NP_001366039.1:p.Ala192Ser
ENST00000630721.3:c.574G>T MANE Select ENSP00000487486.2:p.Ala192Ser
NM_001042537.1:c.730G>T NP_001036002.1:p.Ala244Ser
NM_001042537.2:c.730G>T NP_001036002.1:p.Ala244Ser
NM_001177651.1:c.574G>T NP_001171122.1:p.Ala192Ser
NM_001177651.2:c.574G>T NP_001171122.1:p.Ala192Ser
NM_001330652.1:c.478G>T NP_001317581.1:p.Ala160Ser
NM_001330652.2:c.478G>T NP_001317581.1:p.Ala160Ser
NM_001400909.1:c.574G>T NP_001387838.1:p.Ala192Ser
NM_001400910.1:c.574G>T NP_001387839.1:p.Ala192Ser
NM_001400911.1:c.574G>T NP_001387840.1:p.Ala192Ser
NM_001400912.1:c.574G>T NP_001387841.1:p.Ala192Ser
NM_001400913.1:c.478G>T NP_001387842.1:p.Ala160Ser
NM_006359.2:c.634G>T NP_006350.1:p.Ala212Ser
NM_006359.3:c.634G>T NP_006350.1:p.Ala212Ser
ENST00000370695.6:c.730G>T ENSP00000359729.4:p.Ala244Ser
ENST00000370695.8:c.730G>T ENSP00000359729.4:p.Ala244Ser
ENST00000370698.7:c.634G>T ENSP00000359732.3:p.Ala212Ser
ENST00000370701.5:c.574G>T ENSP00000359735.1:p.Ala192Ser
ENST00000370701.6:c.574G>T ENSP00000359735.1:p.Ala192Ser
ENST00000636092.1:c.574G>T ENSP00000490406.1:p.Ala192Ser
ENST00000636347.1:c.574G>T ENSP00000490648.1:p.Ala192Ser
ENST00000637195.1:c.478G>T ENSP00000490330.1:p.Ala160Ser
ENST00000637234.1:c.574G>T ENSP00000490527.1:p.Ala192Ser
ENST00000637581.1:c.574G>T ENSP00000490731.1:p.Ala192Ser
ENST00000643775.1:n.517G>T
ENST00000674809.1:c.517G>T ENSP00000502455.1:p.Ala173Ser
ENST00000675550.1:n.515G>T
ENST00000675856.1:n.517G>T
ENST00000676043.1:c.517G>T ENSP00000501920.1:p.Ala173Ser
ENST00000678163.1:c.730G>T ENSP00000502845.1:p.Ala244Ser
XM_006724726.2:c.574G>T XP_006724789.1:p.Ala192Ser
XM_006724726.3:c.574G>T XP_006724789.1:p.Ala192Ser
XM_011531243.1:c.478G>T XP_011529545.1:p.Ala160Ser
XM_017029223.2:c.574G>T XP_016884712.1:p.Ala192Ser
XM_017029224.1:c.574G>T XP_016884713.1:p.Ala192Ser
XM_017029225.1:c.478G>T XP_016884714.1:p.Ala160Ser