Canonical Allele Identifier: CA9358830

Gene: SLC7A9

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32864086A>G , CM000681.2:g.32864086A>G	GRCh38
NC_000019.9:g.33354992A>G , CM000681.1:g.33354992A>G	GRCh37
NC_000019.8:g.38046832A>G	NCBI36
NG_008258.1:g.10692T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014270.5:c.478+10T>C MANE Select	NP_055085.1:n.478+10T>C
ENST00000023064.9:c.478+10T>C MANE Select	ENSP00000023064.3:n.478+10T>C
NM_001126335.1:c.478+10T>C	NP_001119807.1:n.478+10T>C
NM_001126335.2:c.478+10T>C	NP_001119807.1:n.478+10T>C
NM_001243036.1:c.478+10T>C	NP_001229965.1:n.478+10T>C
NM_001243036.2:c.478+10T>C	NP_001229965.1:n.478+10T>C
NM_014270.4:c.478+10T>C	NP_055085.1:n.478+10T>C
ENST00000023064.8:c.478+10T>C	ENSP00000023064.3:n.478+10T>C
ENST00000587772.1:c.478+10T>C	ENSP00000468439.1:n.478+10T>C
ENST00000589659.1:n.423+10T>C
ENST00000590341.5:c.478+10T>C	ENSP00000464822.1:n.478+10T>C
ENST00000590465.5:c.*210+10T>C	ENSP00000468076.1:n.*210+10T>C
ENST00000592232.5:c.*210+10T>C	ENSP00000465563.1:n.*210+10T>C
XM_006722992.1:c.23+10T>C	XP_006723055.1:n.23+10T>C
XM_011526402.1:c.478+10T>C	XP_011524704.1:n.478+10T>C
XM_011526402.3:c.478+10T>C	XP_011524704.1:n.478+10T>C
XM_017026230.1:c.214+10T>C	XP_016881719.1:n.214+10T>C
XM_024451334.1:c.-565+10T>C	XP_024307102.1:n.-565+10T>C