Canonical Allele Identifier: CA5543070

Gene: SLC29A3

Linked Data

• dbSNP Id: rs558219731
• ExAC: 10:73121803 G / T
• gnomAD v2: 10-73121803-G-T
• gnomAD v3: 10-71362046-G-T
• gnomAD v4: 10-71362046-G-T
• MyVariant Identifiers: chr10:g.73121803G>T (hg19) ; chr10:g.71362046G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362046G>T , CM000672.2:g.71362046G>T	GRCh38
NC_000010.10:g.73121803G>T , CM000672.1:g.73121803G>T	GRCh37
NC_000010.9:g.72791809G>T	NCBI36
NG_017066.1:g.47794G>T
NG_017066.2:g.47788G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2342G>T
ENST00000373189.6:c.866G>T MANE Select	ENSP00000362285.5:p.Arg289Ile
ENST00000479577.2:c.632G>T	ENSP00000493995.1:p.Arg211Ile
ENST00000642198.1:c.*438G>T	ENSP00000494827.1:n.*438G>T
ENST00000642772.1:c.*94+5803G>T	ENSP00000495041.1:n.*94+5803G>T
ENST00000643042.1:c.487G>T	ENSP00000496674.1:n.487G>T
ENST00000643619.1:c.*449G>T	ENSP00000494378.1:n.*449G>T
ENST00000643752.1:c.*192G>T	ENSP00000495000.1:n.*192G>T
ENST00000644088.1:c.*187G>T	ENSP00000494066.1:n.*187G>T
ENST00000644591.1:c.*192G>T	ENSP00000496664.1:n.*192G>T
ENST00000644895.1:c.*99+5803G>T	ENSP00000493872.1:n.*99+5803G>T
ENST00000645345.1:c.*438G>T	ENSP00000495859.1:n.*438G>T
ENST00000647524.1:c.*449G>T	ENSP00000495077.1:n.*449G>T
ENST00000373189.5:c.866G>T	ENSP00000362285.5:p.Arg289Ile
ENST00000469204.1:n.363G>T
NM_001174098.1:c.*95G>T	NP_001167569.1:n.*95G>T
NM_018344.5:c.866G>T	NP_060814.4:p.Arg289Ile
NR_033413.1:n.840G>T
NR_033414.1:n.613G>T
XM_006717910.2:c.632G>T	XP_006717973.1:p.Arg211Ile
NM_001363518.1:c.632G>T	NP_001350447.1:p.Arg211Ile
XM_017016377.2:c.428G>T	XP_016871866.1:p.Arg143Ile
XM_017016378.2:c.248G>T	XP_016871867.1:p.Arg83Ile
NM_018344.6:c.866G>T MANE Select	NP_060814.4:p.Arg289Ile
NM_001174098.2:c.*95G>T	NP_001167569.1:n.*95G>T
NM_001363518.2:c.632G>T	NP_001350447.1:p.Arg211Ile
NR_033413.2:n.834G>T
NR_033414.2:n.607G>T