Canonical Allele Identifier: CA117725
Gene: SLC7A9 HGNC NCBI

Linked Data

ClinVar Variation Id: 5783
ClinVar RCV Id: RCV000006139
dbSNP Id: rs121908482
ExAC: 19:33353388 C / T
gnomAD v2: 19-33353388-C-T
gnomAD v4: 19-32862482-C-T
COSMIC: COSM5365683
MyVariant Identifiers: chr19:g.33353388C>T (hg19) chr19:g.32862482C>T (hg38)
PubMed: PMID:10471498 PMID:15635077
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.32862482C>T , CM000681.2:g.32862482C>T GRCh38
NC_000019.9:g.33353388C>T , CM000681.1:g.33353388C>T GRCh37
NC_000019.8:g.38045228C>T NCBI36
NG_008258.1:g.12296G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000023064.9:c.583G>A MANE Select ENSP00000023064.3:p.Gly195Arg
ENST00000023064.8:c.583G>A ENSP00000023064.3:p.Gly195Arg
ENST00000587772.1:c.583G>A ENSP00000468439.1:p.Gly195Arg
ENST00000589659.1:n.528G>A
ENST00000590341.5:c.583G>A ENSP00000464822.1:p.Gly195Arg
ENST00000590465.5:c.*210+1614G>A ENSP00000468076.1:n.*210+1614G>A
ENST00000592232.5:c.*210+1614G>A ENSP00000465563.1:n.*210+1614G>A
NM_001126335.1:c.583G>A NP_001119807.1:p.Gly195Arg
NM_001243036.1:c.583G>A NP_001229965.1:p.Gly195Arg
NM_014270.4:c.583G>A NP_055085.1:p.Gly195Arg
XM_006722992.1:c.23+1614G>A XP_006723055.1:n.23+1614G>A
XM_011526402.1:c.583G>A XP_011524704.1:p.Gly195Arg
XM_011526402.3:c.583G>A XP_011524704.1:p.Gly195Arg
XM_017026230.1:c.319G>A XP_016881719.1:p.Gly107Arg
XM_024451334.1:c.-565+1614G>A XP_024307102.1:n.-565+1614G>A
NM_014270.5:c.583G>A MANE Select NP_055085.1:p.Gly195Arg
NM_001126335.2:c.583G>A NP_001119807.1:p.Gly195Arg
NM_001243036.2:c.583G>A NP_001229965.1:p.Gly195Arg
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