Canonical Allele Identifier: CA5543155

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 2093958
• ClinVar RCV Id: RCV003021092
• dbSNP Id: rs778266558
• ExAC: 10:73122167 G / A
• gnomAD v2: 10-73122167-G-A
• gnomAD v3: 10-71362410-G-A
• gnomAD v4: 10-71362410-G-A
• MyVariant Identifiers: chr10:g.73122167G>A (hg19) ; chr10:g.71362410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362410G>A , CM000672.2:g.71362410G>A	GRCh38
NC_000010.10:g.73122167G>A , CM000672.1:g.73122167G>A	GRCh37
NC_000010.9:g.72792173G>A	NCBI36
NG_017066.1:g.48158G>A
NG_017066.2:g.48152G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2706G>A
ENST00000373189.6:c.1230G>A MANE Select	ENSP00000362285.5:p.Gln410=
ENST00000479577.2:c.996G>A	ENSP00000493995.1:p.Gln332=
ENST00000642198.1:c.*802G>A	ENSP00000494827.1:n.*802G>A
ENST00000642772.1:c.*94+6167G>A	ENSP00000495041.1:n.*94+6167G>A
ENST00000643042.1:c.851G>A	ENSP00000496674.1:n.851G>A
ENST00000643619.1:c.*813G>A	ENSP00000494378.1:n.*813G>A
ENST00000643752.1:c.*556G>A	ENSP00000495000.1:n.*556G>A
ENST00000644088.1:c.*551G>A	ENSP00000494066.1:n.*551G>A
ENST00000644591.1:c.*556G>A	ENSP00000496664.1:n.*556G>A
ENST00000644895.1:c.*99+6167G>A	ENSP00000493872.1:n.*99+6167G>A
ENST00000645345.1:c.*802G>A	ENSP00000495859.1:n.*802G>A
ENST00000647524.1:c.*813G>A	ENSP00000495077.1:n.*813G>A
ENST00000373189.5:c.1230G>A	ENSP00000362285.5:p.Gln410=
ENST00000469204.1:n.727G>A
NM_001174098.1:c.*459G>A	NP_001167569.1:n.*459G>A
NM_018344.5:c.1230G>A	NP_060814.4:p.Gln410=
NR_033413.1:n.1204G>A
NR_033414.1:n.977G>A
XM_006717910.2:c.996G>A	XP_006717973.1:p.Gln332=
NM_001363518.1:c.996G>A	NP_001350447.1:p.Gln332=
XM_017016377.2:c.792G>A	XP_016871866.1:p.Gln264=
XM_017016378.2:c.612G>A	XP_016871867.1:p.Gln204=
NM_018344.6:c.1230G>A MANE Select	NP_060814.4:p.Gln410=
NM_001174098.2:c.*459G>A	NP_001167569.1:n.*459G>A
NM_001363518.2:c.996G>A	NP_001350447.1:p.Gln332=
NR_033413.2:n.1198G>A
NR_033414.2:n.971G>A