Canonical Allele Identifier: CA5543092

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 300367
• ClinVar RCV Id: RCV000332292 ; RCV003417973
• dbSNP Id: rs139066012
• ExAC: 10:73121883 T / G
• gnomAD v2: 10-73121883-T-G
• gnomAD v3: 10-71362126-T-G
• gnomAD v4: 10-71362126-T-G
• MyVariant Identifiers: chr10:g.73121883T>G (hg19) ; chr10:g.71362126T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362126T>G , CM000672.2:g.71362126T>G	GRCh38
NC_000010.10:g.73121883T>G , CM000672.1:g.73121883T>G	GRCh37
NC_000010.9:g.72791889T>G	NCBI36
NG_017066.1:g.47874T>G
NG_017066.2:g.47868T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2422T>G
ENST00000373189.6:c.946T>G MANE Select	ENSP00000362285.5:p.Phe316Val
ENST00000479577.2:c.712T>G	ENSP00000493995.1:p.Phe238Val
ENST00000642198.1:c.*518T>G	ENSP00000494827.1:n.*518T>G
ENST00000642772.1:c.*94+5883T>G	ENSP00000495041.1:n.*94+5883T>G
ENST00000643042.1:c.567T>G	ENSP00000496674.1:n.567T>G
ENST00000643619.1:c.*529T>G	ENSP00000494378.1:n.*529T>G
ENST00000643752.1:c.*272T>G	ENSP00000495000.1:n.*272T>G
ENST00000644088.1:c.*267T>G	ENSP00000494066.1:n.*267T>G
ENST00000644591.1:c.*272T>G	ENSP00000496664.1:n.*272T>G
ENST00000644895.1:c.*99+5883T>G	ENSP00000493872.1:n.*99+5883T>G
ENST00000645345.1:c.*518T>G	ENSP00000495859.1:n.*518T>G
ENST00000647524.1:c.*529T>G	ENSP00000495077.1:n.*529T>G
ENST00000373189.5:c.946T>G	ENSP00000362285.5:p.Phe316Val
ENST00000469204.1:n.443T>G
NM_001174098.1:c.*175T>G	NP_001167569.1:n.*175T>G
NM_018344.5:c.946T>G	NP_060814.4:p.Phe316Val
NR_033413.1:n.920T>G
NR_033414.1:n.693T>G
XM_006717910.2:c.712T>G	XP_006717973.1:p.Phe238Val
NM_001363518.1:c.712T>G	NP_001350447.1:p.Phe238Val
XM_017016377.2:c.508T>G	XP_016871866.1:p.Phe170Val
XM_017016378.2:c.328T>G	XP_016871867.1:p.Phe110Val
NM_018344.6:c.946T>G MANE Select	NP_060814.4:p.Phe316Val
NM_001174098.2:c.*175T>G	NP_001167569.1:n.*175T>G
NM_001363518.2:c.712T>G	NP_001350447.1:p.Phe238Val
NR_033413.2:n.914T>G
NR_033414.2:n.687T>G