Canonical Allele Identifier: CA5543096

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 716209
• ClinVar RCV Id: RCV000888822
• dbSNP Id: rs149876239
• ExAC: 10:73121909 C / T
• gnomAD v2: 10-73121909-C-T
• gnomAD v3: 10-71362152-C-T
• gnomAD v4: 10-71362152-C-T
• MyVariant Identifiers: chr10:g.73121909C>T (hg19) ; chr10:g.71362152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362152C>T , CM000672.2:g.71362152C>T	GRCh38
NC_000010.10:g.73121909C>T , CM000672.1:g.73121909C>T	GRCh37
NC_000010.9:g.72791915C>T	NCBI36
NG_017066.1:g.47900C>T
NG_017066.2:g.47894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2448C>T
ENST00000373189.6:c.972C>T MANE Select	ENSP00000362285.5:p.Pro324=
ENST00000479577.2:c.738C>T	ENSP00000493995.1:p.Pro246=
ENST00000642198.1:c.*544C>T	ENSP00000494827.1:n.*544C>T
ENST00000642772.1:c.*94+5909C>T	ENSP00000495041.1:n.*94+5909C>T
ENST00000643042.1:c.593C>T	ENSP00000496674.1:n.593C>T
ENST00000643619.1:c.*555C>T	ENSP00000494378.1:n.*555C>T
ENST00000643752.1:c.*298C>T	ENSP00000495000.1:n.*298C>T
ENST00000644088.1:c.*293C>T	ENSP00000494066.1:n.*293C>T
ENST00000644591.1:c.*298C>T	ENSP00000496664.1:n.*298C>T
ENST00000644895.1:c.*99+5909C>T	ENSP00000493872.1:n.*99+5909C>T
ENST00000645345.1:c.*544C>T	ENSP00000495859.1:n.*544C>T
ENST00000647524.1:c.*555C>T	ENSP00000495077.1:n.*555C>T
ENST00000373189.5:c.972C>T	ENSP00000362285.5:p.Pro324=
ENST00000469204.1:n.469C>T
NM_001174098.1:c.*201C>T	NP_001167569.1:n.*201C>T
NM_018344.5:c.972C>T	NP_060814.4:p.Pro324=
NR_033413.1:n.946C>T
NR_033414.1:n.719C>T
XM_006717910.2:c.738C>T	XP_006717973.1:p.Pro246=
NM_001363518.1:c.738C>T	NP_001350447.1:p.Pro246=
XM_017016377.2:c.534C>T	XP_016871866.1:p.Pro178=
XM_017016378.2:c.354C>T	XP_016871867.1:p.Pro118=
NM_018344.6:c.972C>T MANE Select	NP_060814.4:p.Pro324=
NM_001174098.2:c.*201C>T	NP_001167569.1:n.*201C>T
NM_001363518.2:c.738C>T	NP_001350447.1:p.Pro246=
NR_033413.2:n.940C>T
NR_033414.2:n.713C>T