Canonical Allele Identifier: CA377114262

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1902244
• ClinVar RCV Id: RCV002580140
• dbSNP Id: rs1847069311
• gnomAD v4: 10-71362039-G-A
• MyVariant Identifiers: chr10:g.73121796G>A (hg19) ; chr10:g.71362039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362039G>A , CM000672.2:g.71362039G>A	GRCh38
NC_000010.10:g.73121796G>A , CM000672.1:g.73121796G>A	GRCh37
NC_000010.9:g.72791802G>A	NCBI36
NG_017066.1:g.47787G>A
NG_017066.2:g.47781G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2335G>A
ENST00000373189.6:c.859G>A MANE Select	ENSP00000362285.5:p.Ala287Thr
ENST00000479577.2:c.625G>A	ENSP00000493995.1:p.Ala209Thr
ENST00000642198.1:c.*431G>A	ENSP00000494827.1:n.*431G>A
ENST00000642772.1:c.*94+5796G>A	ENSP00000495041.1:n.*94+5796G>A
ENST00000643042.1:c.480G>A	ENSP00000496674.1:n.480G>A
ENST00000643619.1:c.*442G>A	ENSP00000494378.1:n.*442G>A
ENST00000643752.1:c.*185G>A	ENSP00000495000.1:n.*185G>A
ENST00000644088.1:c.*180G>A	ENSP00000494066.1:n.*180G>A
ENST00000644591.1:c.*185G>A	ENSP00000496664.1:n.*185G>A
ENST00000644895.1:c.*99+5796G>A	ENSP00000493872.1:n.*99+5796G>A
ENST00000645345.1:c.*431G>A	ENSP00000495859.1:n.*431G>A
ENST00000647524.1:c.*442G>A	ENSP00000495077.1:n.*442G>A
ENST00000373189.5:c.859G>A	ENSP00000362285.5:p.Ala287Thr
ENST00000469204.1:n.356G>A
NM_001174098.1:c.*88G>A	NP_001167569.1:n.*88G>A
NM_018344.5:c.859G>A	NP_060814.4:p.Ala287Thr
NR_033413.1:n.833G>A
NR_033414.1:n.606G>A
XM_006717910.2:c.625G>A	XP_006717973.1:p.Ala209Thr
NM_001363518.1:c.625G>A	NP_001350447.1:p.Ala209Thr
XM_017016377.2:c.421G>A	XP_016871866.1:p.Ala141Thr
XM_017016378.2:c.241G>A	XP_016871867.1:p.Ala81Thr
NM_018344.6:c.859G>A MANE Select	NP_060814.4:p.Ala287Thr
NM_001174098.2:c.*88G>A	NP_001167569.1:n.*88G>A
NM_001363518.2:c.625G>A	NP_001350447.1:p.Ala209Thr
NR_033413.2:n.827G>A
NR_033414.2:n.600G>A