Canonical Allele Identifier: CA9358733
Gene: SLC7A9 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 328755
ClinVar RCV Id: RCV000279862
dbSNP Id: rs1007160

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32862155G>T , CM000681.2:g.32862155G>T GRCh38
NC_000019.9:g.33353061G>T , CM000681.1:g.33353061G>T GRCh37
NC_000019.8:g.38044901G>T NCBI36
NG_008258.1:g.12623C>A

Transcript Alleles

HGVS Amino-acid change
NM_001126335.1:c.667C>A VV NP_001119807.1:p.Leu223Met
NM_001243036.1:c.667C>A VV NP_001229965.1:p.Leu223Met
NM_014270.4:c.667C>A VV NP_055085.1:p.Leu223Met
XM_006722992.1:c.24-1505C>A XP_006723055.1:p.=
XM_011526402.1:c.667C>A XP_011524704.1:p.Leu223Met
XM_011526402.3:c.667C>A XP_011524704.1:p.Leu223Met
XM_017026230.1:c.403C>A XP_016881719.1:p.Leu135Met
XM_024451334.1:c.-564-1505C>A XP_024307102.1:p.=
NM_014270.5:c.667C>A VV MANE Preferred NP_055085.1:p.Leu223Met
ENST00000023064.8:c.667C>A ENSP00000023064.3:p.Leu223Met
ENST00000587772.1:c.667C>A ENSP00000468439.1:p.Leu223Met
ENST00000589659.1:n.612C>A
ENST00000590341.5:c.667C>A ENSP00000464822.1:p.Leu223Met
ENST00000590465.5:c.*211-1505C>A ENSP00000468076.1:p.=
ENST00000592232.5:c.*211-1505C>A ENSP00000465563.1:p.=