Canonical Allele Identifier: CA211245

Gene: SLC7A9

Linked Data

• ClinVar Variation Id: 5782
• ClinVar RCV Id: RCV000006138 ; RCV000480556 ; RCV004018572
• dbSNP Id: rs79389353
• ExAC: 19:33353427 C / T
• gnomAD v2: 19-33353427-C-T
• gnomAD v3: 19-32862521-C-T
• gnomAD v4: 19-32862521-C-T
• MyVariant Identifiers: chr19:g.33353427C>T (hg19) ; chr19:g.32862521C>T (hg38)
• PubMed: PMID:10471498 ; PMID:11157794 ; PMID:12234930 ; PMID:12820697 ; PMID:15635077 ; PMID:25296721 ; PMID:25964309

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32862521C>T , CM000681.2:g.32862521C>T	GRCh38
NC_000019.9:g.33353427C>T , CM000681.1:g.33353427C>T	GRCh37
NC_000019.8:g.38045267C>T	NCBI36
NG_008258.1:g.12257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000023064.9:c.544G>A MANE Select	ENSP00000023064.3:p.Ala182Thr
ENST00000023064.8:c.544G>A	ENSP00000023064.3:p.Ala182Thr
ENST00000587772.1:c.544G>A	ENSP00000468439.1:p.Ala182Thr
ENST00000589659.1:n.489G>A
ENST00000590341.5:c.544G>A	ENSP00000464822.1:p.Ala182Thr
ENST00000590465.5:c.*210+1575G>A	ENSP00000468076.1:n.*210+1575G>A
ENST00000592232.5:c.*210+1575G>A	ENSP00000465563.1:n.*210+1575G>A
NM_001126335.1:c.544G>A	NP_001119807.1:p.Ala182Thr
NM_001243036.1:c.544G>A	NP_001229965.1:p.Ala182Thr
NM_014270.4:c.544G>A	NP_055085.1:p.Ala182Thr
XM_006722992.1:c.23+1575G>A	XP_006723055.1:n.23+1575G>A
XM_011526402.1:c.544G>A	XP_011524704.1:p.Ala182Thr
XM_011526402.3:c.544G>A	XP_011524704.1:p.Ala182Thr
XM_017026230.1:c.280G>A	XP_016881719.1:p.Ala94Thr
XM_024451334.1:c.-565+1575G>A	XP_024307102.1:n.-565+1575G>A
NM_014270.5:c.544G>A MANE Select	NP_055085.1:p.Ala182Thr
NM_001126335.2:c.544G>A	NP_001119807.1:p.Ala182Thr
NM_001243036.2:c.544G>A	NP_001229965.1:p.Ala182Thr