Canonical Allele Identifier: CA5543153

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 572794
• ClinVar RCV Id: RCV000694269
• dbSNP Id: rs144517514
• ExAC: 10:73122156 G / A
• gnomAD v2: 10-73122156-G-A
• gnomAD v3: 10-71362399-G-A
• gnomAD v4: 10-71362399-G-A
• MyVariant Identifiers: chr10:g.73122156G>A (hg19) ; chr10:g.71362399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362399G>A , CM000672.2:g.71362399G>A	GRCh38
NC_000010.10:g.73122156G>A , CM000672.1:g.73122156G>A	GRCh37
NC_000010.9:g.72792162G>A	NCBI36
NG_017066.1:g.48147G>A
NG_017066.2:g.48141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2695G>A
ENST00000373189.6:c.1219G>A MANE Select	ENSP00000362285.5:p.Val407Met
ENST00000479577.2:c.985G>A	ENSP00000493995.1:p.Val329Met
ENST00000642198.1:c.*791G>A	ENSP00000494827.1:n.*791G>A
ENST00000642772.1:c.*94+6156G>A	ENSP00000495041.1:n.*94+6156G>A
ENST00000643042.1:c.840G>A	ENSP00000496674.1:n.840G>A
ENST00000643619.1:c.*802G>A	ENSP00000494378.1:n.*802G>A
ENST00000643752.1:c.*545G>A	ENSP00000495000.1:n.*545G>A
ENST00000644088.1:c.*540G>A	ENSP00000494066.1:n.*540G>A
ENST00000644591.1:c.*545G>A	ENSP00000496664.1:n.*545G>A
ENST00000644895.1:c.*99+6156G>A	ENSP00000493872.1:n.*99+6156G>A
ENST00000645345.1:c.*791G>A	ENSP00000495859.1:n.*791G>A
ENST00000647524.1:c.*802G>A	ENSP00000495077.1:n.*802G>A
ENST00000373189.5:c.1219G>A	ENSP00000362285.5:p.Val407Met
ENST00000469204.1:n.716G>A
NM_001174098.1:c.*448G>A	NP_001167569.1:n.*448G>A
NM_018344.5:c.1219G>A	NP_060814.4:p.Val407Met
NR_033413.1:n.1193G>A
NR_033414.1:n.966G>A
XM_006717910.2:c.985G>A	XP_006717973.1:p.Val329Met
NM_001363518.1:c.985G>A	NP_001350447.1:p.Val329Met
XM_017016377.2:c.781G>A	XP_016871866.1:p.Val261Met
XM_017016378.2:c.601G>A	XP_016871867.1:p.Val201Met
NM_018344.6:c.1219G>A MANE Select	NP_060814.4:p.Val407Met
NM_001174098.2:c.*448G>A	NP_001167569.1:n.*448G>A
NM_001363518.2:c.985G>A	NP_001350447.1:p.Val329Met
NR_033413.2:n.1187G>A
NR_033414.2:n.960G>A