Canonical Allele Identifier: CA5543061

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1968846
• ClinVar RCV Id: RCV002755281
• dbSNP Id: rs778785669
• ExAC: 10:73121752 G / A
• gnomAD v2: 10-73121752-G-A
• gnomAD v4: 10-71361995-G-A
• MyVariant Identifiers: chr10:g.73121752G>A (hg19) ; chr10:g.71361995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361995G>A , CM000672.2:g.71361995G>A	GRCh38
NC_000010.10:g.73121752G>A , CM000672.1:g.73121752G>A	GRCh37
NC_000010.9:g.72791758G>A	NCBI36
NG_017066.1:g.47743G>A
NG_017066.2:g.47737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2291G>A
ENST00000373189.6:c.815G>A MANE Select	ENSP00000362285.5:p.Gly272Asp
ENST00000479577.2:c.581G>A	ENSP00000493995.1:p.Gly194Asp
ENST00000642198.1:c.*387G>A	ENSP00000494827.1:n.*387G>A
ENST00000642772.1:c.*94+5752G>A	ENSP00000495041.1:n.*94+5752G>A
ENST00000643042.1:c.436G>A	ENSP00000496674.1:n.436G>A
ENST00000643619.1:c.*398G>A	ENSP00000494378.1:n.*398G>A
ENST00000643752.1:c.*141G>A	ENSP00000495000.1:n.*141G>A
ENST00000644088.1:c.*136G>A	ENSP00000494066.1:n.*136G>A
ENST00000644591.1:c.*141G>A	ENSP00000496664.1:n.*141G>A
ENST00000644895.1:c.*99+5752G>A	ENSP00000493872.1:n.*99+5752G>A
ENST00000645345.1:c.*387G>A	ENSP00000495859.1:n.*387G>A
ENST00000647524.1:c.*398G>A	ENSP00000495077.1:n.*398G>A
ENST00000373189.5:c.815G>A	ENSP00000362285.5:p.Gly272Asp
ENST00000469204.1:n.312G>A
NM_001174098.1:c.*44G>A	NP_001167569.1:n.*44G>A
NM_018344.5:c.815G>A	NP_060814.4:p.Gly272Asp
NR_033413.1:n.789G>A
NR_033414.1:n.562G>A
XM_006717910.2:c.581G>A	XP_006717973.1:p.Gly194Asp
NM_001363518.1:c.581G>A	NP_001350447.1:p.Gly194Asp
XM_017016377.2:c.377G>A	XP_016871866.1:p.Gly126Asp
XM_017016378.2:c.197G>A	XP_016871867.1:p.Gly66Asp
NM_018344.6:c.815G>A MANE Select	NP_060814.4:p.Gly272Asp
NM_001174098.2:c.*44G>A	NP_001167569.1:n.*44G>A
NM_001363518.2:c.581G>A	NP_001350447.1:p.Gly194Asp
NR_033413.2:n.783G>A
NR_033414.2:n.556G>A