Canonical Allele Identifier: CA5543205

Gene: SLC29A3

Linked Data

• dbSNP Id: rs762256099
• ExAC: 10:73122386 T / C
• gnomAD v2: 10-73122386-T-C
• gnomAD v4: 10-71362629-T-C
• MyVariant Identifiers: chr10:g.73122386T>C (hg19) ; chr10:g.71362629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362629T>C , CM000672.2:g.71362629T>C	GRCh38
NC_000010.10:g.73122386T>C , CM000672.1:g.73122386T>C	GRCh37
NC_000010.9:g.72792392T>C	NCBI36
NG_017066.1:g.48377T>C
NG_017066.2:g.48371T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2925T>C
ENST00000373189.6:c.*21T>C MANE Select	ENSP00000362285.5:n.*21T>C
ENST00000479577.2:c.*21T>C	ENSP00000493995.1:n.*21T>C
ENST00000642198.1:c.*1021T>C	ENSP00000494827.1:n.*1021T>C
ENST00000642772.1:c.*94+6386T>C	ENSP00000495041.1:n.*94+6386T>C
ENST00000643042.1:c.1070T>C	ENSP00000496674.1:n.1070T>C
ENST00000643619.1:c.*1032T>C	ENSP00000494378.1:n.*1032T>C
ENST00000643752.1:c.*775T>C	ENSP00000495000.1:n.*775T>C
ENST00000644088.1:c.*770T>C	ENSP00000494066.1:n.*770T>C
ENST00000644591.1:c.*775T>C	ENSP00000496664.1:n.*775T>C
ENST00000644895.1:c.*99+6386T>C	ENSP00000493872.1:n.*99+6386T>C
ENST00000645345.1:c.*1021T>C	ENSP00000495859.1:n.*1021T>C
ENST00000647524.1:c.*1032T>C	ENSP00000495077.1:n.*1032T>C
ENST00000373189.5:c.*21T>C	ENSP00000362285.5:n.*21T>C
NM_001174098.1:c.*678T>C	NP_001167569.1:n.*678T>C
NM_018344.5:c.*21T>C	NP_060814.4:n.*21T>C
NR_033413.1:n.1423T>C
NR_033414.1:n.1196T>C
XM_006717910.2:c.*21T>C	XP_006717973.1:n.*21T>C
NM_001363518.1:c.*21T>C	NP_001350447.1:n.*21T>C
XM_017016377.2:c.*21T>C	XP_016871866.1:n.*21T>C
XM_017016378.2:c.*21T>C	XP_016871867.1:n.*21T>C
NM_018344.6:c.*21T>C MANE Select	NP_060814.4:n.*21T>C
NM_001174098.2:c.*678T>C	NP_001167569.1:n.*678T>C
NM_001363518.2:c.*21T>C	NP_001350447.1:n.*21T>C
NR_033413.2:n.1417T>C
NR_033414.2:n.1190T>C