Canonical Allele Identifier: CA359760730
Community Standard Title: NM_173514.4(SLC38A9):c.452T>C (p.Met151Thr)
Gene: SLC38A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55669302A>G , CM000667.2:g.55669302A>G GRCh38
NC_000005.9:g.54965130A>G , CM000667.1:g.54965130A>G GRCh37
NC_000005.8:g.55000887A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_173514.4:c.452T>C MANE Select NP_775785.2:p.Met151Thr
ENST00000396865.7:c.452T>C MANE Select ENSP00000380074.2:p.Met151Thr
NM_001258286.1:c.263T>C NP_001245215.1:p.Met88Thr
NM_001258287.1:c.371T>C NP_001245216.1:p.Met124Thr
NM_001282429.1:c.80T>C NP_001269358.1:p.Met27Thr
NM_001349382.1:c.452T>C NP_001336311.1:p.Met151Thr
NM_001349383.1:c.452T>C NP_001336312.1:p.Met151Thr
NM_001349384.1:c.452T>C NP_001336313.1:p.Met151Thr
NM_001349385.1:c.452T>C NP_001336314.1:p.Met151Thr
NM_173514.3:c.452T>C NP_775785.2:p.Met151Thr
NR_047649.1:n.803T>C
NR_146165.1:n.653T>C
ENST00000318672.7:c.452T>C ENSP00000316596.3:p.Met151Thr
ENST00000396865.6:c.452T>C ENSP00000380074.2:p.Met151Thr
ENST00000416547.6:c.80T>C ENSP00000397429.2:p.Met27Thr
ENST00000503817.5:c.263T>C ENSP00000424918.1:p.Met88Thr
ENST00000505708.5:c.263T>C ENSP00000427707.1:p.Met88Thr
ENST00000507447.1:n.129T>C
ENST00000508124.5:c.*187T>C ENSP00000426925.1:n.*187T>C
ENST00000511233.5:c.452T>C ENSP00000423219.1:p.Met151Thr
ENST00000512208.5:c.263T>C ENSP00000426413.1:p.Met88Thr
ENST00000512595.5:c.371T>C ENSP00000427335.1:p.Met124Thr
ENST00000514806.5:n.579T>C
ENST00000515629.5:c.263T>C ENSP00000420934.1:p.Met88Thr
XM_006714537.2:c.452T>C XP_006714600.1:p.Met151Thr
XM_006714538.2:c.452T>C XP_006714601.1:p.Met151Thr
XM_006714539.2:c.452T>C XP_006714602.1:p.Met151Thr
XM_006714539.3:c.452T>C XP_006714602.1:p.Met151Thr
XM_011543173.1:c.452T>C XP_011541475.1:p.Met151Thr
XM_011543174.1:c.452T>C XP_011541476.1:p.Met151Thr
XM_011543175.1:c.452T>C XP_011541477.1:p.Met151Thr
XM_011543176.1:c.452T>C XP_011541478.1:p.Met151Thr
XM_011543177.1:c.452T>C XP_011541479.1:p.Met151Thr
XM_011543178.1:c.452T>C XP_011541480.1:p.Met151Thr
XM_011543179.1:c.452T>C XP_011541481.1:p.Met151Thr
XM_011543180.1:c.452T>C XP_011541482.1:p.Met151Thr
XM_011543181.1:c.452T>C XP_011541483.1:p.Met151Thr
XM_011543182.1:c.452T>C XP_011541484.1:p.Met151Thr
XM_011543183.1:c.452T>C XP_011541485.1:p.Met151Thr
XM_011543184.1:c.452T>C XP_011541486.1:p.Met151Thr
XM_017009077.1:c.452T>C XP_016864566.1:p.Met151Thr
XM_017009078.2:c.452T>C XP_016864567.1:p.Met151Thr
XM_017009080.1:c.452T>C XP_016864569.1:p.Met151Thr
XM_017009081.1:c.452T>C XP_016864570.1:p.Met151Thr
XM_017009082.1:c.452T>C XP_016864571.1:p.Met151Thr
XM_024454369.1:c.452T>C XP_024310137.1:p.Met151Thr
XR_001742002.1:n.887T>C
XR_948237.1:n.887T>C
XR_948237.2:n.887T>C
XR_948238.1:n.887T>C