Canonical Allele Identifier: CA405197793

Gene: SLC7A9

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32842182C>A , CM000681.2:g.32842182C>A	GRCh38
NC_000019.9:g.33333088C>A , CM000681.1:g.33333088C>A	GRCh37
NC_000019.8:g.38024928C>A	NCBI36
NG_008258.1:g.32596G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014270.5:c.1210G>T MANE Select	NP_055085.1:p.Glu404Ter
ENST00000023064.9:c.1210G>T MANE Select	ENSP00000023064.3:p.Glu404Ter
NM_001126335.1:c.1210G>T	NP_001119807.1:p.Glu404Ter
NM_001126335.2:c.1210G>T	NP_001119807.1:p.Glu404Ter
NM_001243036.1:c.1210G>T	NP_001229965.1:p.Glu404Ter
NM_001243036.2:c.1210G>T	NP_001229965.1:p.Glu404Ter
NM_014270.4:c.1210G>T	NP_055085.1:p.Glu404Ter
ENST00000023064.8:c.1210G>T	ENSP00000023064.3:p.Glu404Ter
ENST00000587772.1:c.1210G>T	ENSP00000468439.1:p.Glu404Ter
ENST00000590341.5:c.1210G>T	ENSP00000464822.1:p.Glu404Ter
ENST00000590465.5:c.*1357G>T	ENSP00000468076.1:n.*1357G>T
ENST00000592232.5:c.*619G>T	ENSP00000465563.1:n.*619G>T
XM_006722992.1:c.529G>T	XP_006723055.1:p.Glu177Ter
XM_011526402.1:c.1210G>T	XP_011524704.1:p.Glu404Ter
XM_011526402.3:c.1210G>T	XP_011524704.1:p.Glu404Ter
XM_017026230.1:c.946G>T	XP_016881719.1:p.Glu316Ter
XM_024451334.1:c.583G>T	XP_024307102.1:p.Glu195Ter