Canonical Allele Identifier: CA470281047

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1046944911
• gnomAD v3: 10-71362095-G-C
• gnomAD v4: 10-71362095-G-C
• MyVariant Identifiers: chr10:g.73121852G>C (hg19) ; chr10:g.71362095G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362095G>C , CM000672.2:g.71362095G>C	GRCh38
NC_000010.10:g.73121852G>C , CM000672.1:g.73121852G>C	GRCh37
NC_000010.9:g.72791858G>C	NCBI36
NG_017066.1:g.47843G>C
NG_017066.2:g.47837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2391G>C
ENST00000373189.6:c.915G>C MANE Select	ENSP00000362285.5:p.Thr305=
ENST00000479577.2:c.681G>C	ENSP00000493995.1:p.Thr227=
ENST00000642198.1:c.*487G>C	ENSP00000494827.1:n.*487G>C
ENST00000642772.1:c.*94+5852G>C	ENSP00000495041.1:n.*94+5852G>C
ENST00000643042.1:c.536G>C	ENSP00000496674.1:n.536G>C
ENST00000643619.1:c.*498G>C	ENSP00000494378.1:n.*498G>C
ENST00000643752.1:c.*241G>C	ENSP00000495000.1:n.*241G>C
ENST00000644088.1:c.*236G>C	ENSP00000494066.1:n.*236G>C
ENST00000644591.1:c.*241G>C	ENSP00000496664.1:n.*241G>C
ENST00000644895.1:c.*99+5852G>C	ENSP00000493872.1:n.*99+5852G>C
ENST00000645345.1:c.*487G>C	ENSP00000495859.1:n.*487G>C
ENST00000647524.1:c.*498G>C	ENSP00000495077.1:n.*498G>C
ENST00000373189.5:c.915G>C	ENSP00000362285.5:p.Thr305=
ENST00000469204.1:n.412G>C
NM_001174098.1:c.*144G>C	NP_001167569.1:n.*144G>C
NM_018344.5:c.915G>C	NP_060814.4:p.Thr305=
NR_033413.1:n.889G>C
NR_033414.1:n.662G>C
XM_006717910.2:c.681G>C	XP_006717973.1:p.Thr227=
NM_001363518.1:c.681G>C	NP_001350447.1:p.Thr227=
XM_017016377.2:c.477G>C	XP_016871866.1:p.Thr159=
XM_017016378.2:c.297G>C	XP_016871867.1:p.Thr99=
NM_018344.6:c.915G>C MANE Select	NP_060814.4:p.Thr305=
NM_001174098.2:c.*144G>C	NP_001167569.1:n.*144G>C
NM_001363518.2:c.681G>C	NP_001350447.1:p.Thr227=
NR_033413.2:n.883G>C
NR_033414.2:n.656G>C