Canonical Allele Identifier: CA506666504
Gene: SLC7A9 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32859841C>T , CM000681.2:g.32859841C>T GRCh38
NC_000019.9:g.33350747C>T , CM000681.1:g.33350747C>T GRCh37
NC_000019.8:g.38042587C>T NCBI36
NG_008258.1:g.14937G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000023064.9:c.873G>A MANE Select ENSP00000023064.3:p.Val291=
ENST00000023064.8:c.873G>A ENSP00000023064.3:p.Val291=
ENST00000587772.1:c.873G>A ENSP00000468439.1:p.Val291=
ENST00000589659.1:n.818G>A
ENST00000590341.5:c.873G>A ENSP00000464822.1:p.Val291=
ENST00000590465.5:c.*1020G>A ENSP00000468076.1:n.*1020G>A
ENST00000592232.5:c.*379G>A ENSP00000465563.1:n.*379G>A
NM_001126335.1:c.873G>A NP_001119807.1:p.Val291=
NM_001243036.1:c.873G>A NP_001229965.1:p.Val291=
NM_014270.4:c.873G>A NP_055085.1:p.Val291=
XM_006722992.1:c.192G>A XP_006723055.1:p.Val64=
XM_011526402.1:c.873G>A XP_011524704.1:p.Val291=
XM_011526402.3:c.873G>A XP_011524704.1:p.Val291=
XM_017026230.1:c.609G>A XP_016881719.1:p.Val203=
XM_024451334.1:c.246G>A XP_024307102.1:p.Val82=
NM_014270.5:c.873G>A MANE Select NP_055085.1:p.Val291=
NM_001126335.2:c.873G>A NP_001119807.1:p.Val291=
NM_001243036.2:c.873G>A NP_001229965.1:p.Val291=