Canonical Allele Identifier: CA9358801

Gene: SLC7A9

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32862554G>A , CM000681.2:g.32862554G>A	GRCh38
NC_000019.9:g.33353460G>A , CM000681.1:g.33353460G>A	GRCh37
NC_000019.8:g.38045300G>A	NCBI36
NG_008258.1:g.12224C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014270.5:c.511C>T MANE Select	NP_055085.1:p.Arg171Trp
ENST00000023064.9:c.511C>T MANE Select	ENSP00000023064.3:p.Arg171Trp
NM_001126335.1:c.511C>T	NP_001119807.1:p.Arg171Trp
NM_001126335.2:c.511C>T	NP_001119807.1:p.Arg171Trp
NM_001243036.1:c.511C>T	NP_001229965.1:p.Arg171Trp
NM_001243036.2:c.511C>T	NP_001229965.1:p.Arg171Trp
NM_014270.4:c.511C>T	NP_055085.1:p.Arg171Trp
ENST00000023064.8:c.511C>T	ENSP00000023064.3:p.Arg171Trp
ENST00000587772.1:c.511C>T	ENSP00000468439.1:p.Arg171Trp
ENST00000589659.1:n.456C>T
ENST00000590341.5:c.511C>T	ENSP00000464822.1:p.Arg171Trp
ENST00000590465.5:c.*210+1542C>T	ENSP00000468076.1:n.*210+1542C>T
ENST00000592232.5:c.*210+1542C>T	ENSP00000465563.1:n.*210+1542C>T
XM_006722992.1:c.23+1542C>T	XP_006723055.1:n.23+1542C>T
XM_011526402.1:c.511C>T	XP_011524704.1:p.Arg171Trp
XM_011526402.3:c.511C>T	XP_011524704.1:p.Arg171Trp
XM_017026230.1:c.247C>T	XP_016881719.1:p.Arg83Trp
XM_024451334.1:c.-565+1542C>T	XP_024307102.1:n.-565+1542C>T