Canonical Allele Identifier: CA405196688

Gene: SLC7A9

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32833151G>T , CM000681.2:g.32833151G>T	GRCh38
NC_000019.9:g.33324057G>T , CM000681.1:g.33324057G>T	GRCh37
NC_000019.8:g.38015897G>T	NCBI36
NG_008258.1:g.41627C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014270.5:c.1397C>A MANE Select	NP_055085.1:p.Ser466Ter
ENST00000023064.9:c.1397C>A MANE Select	ENSP00000023064.3:p.Ser466Ter
NM_001126335.1:c.1397C>A	NP_001119807.1:p.Ser466Ter
NM_001126335.2:c.1397C>A	NP_001119807.1:p.Ser466Ter
NM_001243036.1:c.1397C>A	NP_001229965.1:p.Ser466Ter
NM_001243036.2:c.1397C>A	NP_001229965.1:p.Ser466Ter
NM_014270.4:c.1397C>A	NP_055085.1:p.Ser466Ter
ENST00000023064.8:c.1397C>A	ENSP00000023064.3:p.Ser466Ter
ENST00000587772.1:c.1397C>A	ENSP00000468439.1:p.Ser466Ter
ENST00000590341.5:c.1397C>A	ENSP00000464822.1:p.Ser466Ter
ENST00000590465.5:c.*1544C>A	ENSP00000468076.1:n.*1544C>A
ENST00000592232.5:c.*806C>A	ENSP00000465563.1:n.*806C>A
XM_006722992.1:c.716C>A	XP_006723055.1:p.Ser239Ter
XM_011526402.1:c.1397C>A	XP_011524704.1:p.Ser466Ter
XM_011526402.3:c.1397C>A	XP_011524704.1:p.Ser466Ter
XM_017026230.1:c.1133C>A	XP_016881719.1:p.Ser378Ter
XM_024451334.1:c.770C>A	XP_024307102.1:p.Ser257Ter