Canonical Allele Identifier: CA377114405

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 2548284
• ClinVar RCV Id: RCV003262976
• MyVariant Identifiers: chr10:g.73121814T>A (hg19) ; chr10:g.71362057T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362057T>A , CM000672.2:g.71362057T>A	GRCh38
NC_000010.10:g.73121814T>A , CM000672.1:g.73121814T>A	GRCh37
NC_000010.9:g.72791820T>A	NCBI36
NG_017066.1:g.47805T>A
NG_017066.2:g.47799T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2353T>A
ENST00000373189.6:c.877T>A MANE Select	ENSP00000362285.5:p.Ser293Thr
ENST00000479577.2:c.643T>A	ENSP00000493995.1:p.Ser215Thr
ENST00000642198.1:c.*449T>A	ENSP00000494827.1:n.*449T>A
ENST00000642772.1:c.*94+5814T>A	ENSP00000495041.1:n.*94+5814T>A
ENST00000643042.1:c.498T>A	ENSP00000496674.1:n.498T>A
ENST00000643619.1:c.*460T>A	ENSP00000494378.1:n.*460T>A
ENST00000643752.1:c.*203T>A	ENSP00000495000.1:n.*203T>A
ENST00000644088.1:c.*198T>A	ENSP00000494066.1:n.*198T>A
ENST00000644591.1:c.*203T>A	ENSP00000496664.1:n.*203T>A
ENST00000644895.1:c.*99+5814T>A	ENSP00000493872.1:n.*99+5814T>A
ENST00000645345.1:c.*449T>A	ENSP00000495859.1:n.*449T>A
ENST00000647524.1:c.*460T>A	ENSP00000495077.1:n.*460T>A
ENST00000373189.5:c.877T>A	ENSP00000362285.5:p.Ser293Thr
ENST00000469204.1:n.374T>A
NM_001174098.1:c.*106T>A	NP_001167569.1:n.*106T>A
NM_018344.5:c.877T>A	NP_060814.4:p.Ser293Thr
NR_033413.1:n.851T>A
NR_033414.1:n.624T>A
XM_006717910.2:c.643T>A	XP_006717973.1:p.Ser215Thr
NM_001363518.1:c.643T>A	NP_001350447.1:p.Ser215Thr
XM_017016377.2:c.439T>A	XP_016871866.1:p.Ser147Thr
XM_017016378.2:c.259T>A	XP_016871867.1:p.Ser87Thr
NM_018344.6:c.877T>A MANE Select	NP_060814.4:p.Ser293Thr
NM_001174098.2:c.*106T>A	NP_001167569.1:n.*106T>A
NM_001363518.2:c.643T>A	NP_001350447.1:p.Ser215Thr
NR_033413.2:n.845T>A
NR_033414.2:n.618T>A