Canonical Allele Identifier: CA307510692
Community Standard Title: NM_014270.5(SLC7A9):c.217G>A (p.Gly73Arg)
Gene: SLC7A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32864647C>T , CM000681.2:g.32864647C>T GRCh38
NC_000019.9:g.33355553C>T , CM000681.1:g.33355553C>T GRCh37
NC_000019.8:g.38047393C>T NCBI36
NG_008258.1:g.10131G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014270.5:c.217G>A MANE Select NP_055085.1:p.Gly73Arg
ENST00000023064.9:c.217G>A MANE Select ENSP00000023064.3:p.Gly73Arg
NM_001126335.1:c.217G>A NP_001119807.1:p.Gly73Arg
NM_001126335.2:c.217G>A NP_001119807.1:p.Gly73Arg
NM_001243036.1:c.217G>A NP_001229965.1:p.Gly73Arg
NM_001243036.2:c.217G>A NP_001229965.1:p.Gly73Arg
NM_014270.4:c.217G>A NP_055085.1:p.Gly73Arg
ENST00000023064.8:c.217G>A ENSP00000023064.3:p.Gly73Arg
ENST00000587772.1:c.217G>A ENSP00000468439.1:p.Gly73Arg
ENST00000590341.5:c.217G>A ENSP00000464822.1:p.Gly73Arg
ENST00000590465.5:c.88-309G>A ENSP00000468076.1:n.88-309G>A
ENST00000592232.5:c.88-309G>A ENSP00000465563.1:n.88-309G>A
XM_006722992.1:c.-239G>A XP_006723055.1:n.-239G>A
XM_011526402.1:c.217G>A XP_011524704.1:p.Gly73Arg
XM_011526402.3:c.217G>A XP_011524704.1:p.Gly73Arg
XM_017026230.1:c.-29-309G>A XP_016881719.1:n.-29-309G>A
XM_024451334.1:c.-826G>A XP_024307102.1:n.-826G>A