Canonical Allele Identifier: CA377117007

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1457918910
• gnomAD v2: 10-73122127-A-C
• gnomAD v4: 10-71362370-A-C
• MyVariant Identifiers: chr10:g.73122127A>C (hg19) ; chr10:g.71362370A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362370A>C , CM000672.2:g.71362370A>C	GRCh38
NC_000010.10:g.73122127A>C , CM000672.1:g.73122127A>C	GRCh37
NC_000010.9:g.72792133A>C	NCBI36
NG_017066.1:g.48118A>C
NG_017066.2:g.48112A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2666A>C
ENST00000373189.6:c.1190A>C MANE Select	ENSP00000362285.5:p.Asn397Thr
ENST00000479577.2:c.956A>C	ENSP00000493995.1:p.Asn319Thr
ENST00000642198.1:c.*762A>C	ENSP00000494827.1:n.*762A>C
ENST00000642772.1:c.*94+6127A>C	ENSP00000495041.1:n.*94+6127A>C
ENST00000643042.1:c.811A>C	ENSP00000496674.1:n.811A>C
ENST00000643619.1:c.*773A>C	ENSP00000494378.1:n.*773A>C
ENST00000643752.1:c.*516A>C	ENSP00000495000.1:n.*516A>C
ENST00000644088.1:c.*511A>C	ENSP00000494066.1:n.*511A>C
ENST00000644591.1:c.*516A>C	ENSP00000496664.1:n.*516A>C
ENST00000644895.1:c.*99+6127A>C	ENSP00000493872.1:n.*99+6127A>C
ENST00000645345.1:c.*762A>C	ENSP00000495859.1:n.*762A>C
ENST00000647524.1:c.*773A>C	ENSP00000495077.1:n.*773A>C
ENST00000373189.5:c.1190A>C	ENSP00000362285.5:p.Asn397Thr
ENST00000469204.1:n.687A>C
NM_001174098.1:c.*419A>C	NP_001167569.1:n.*419A>C
NM_018344.5:c.1190A>C	NP_060814.4:p.Asn397Thr
NR_033413.1:n.1164A>C
NR_033414.1:n.937A>C
XM_006717910.2:c.956A>C	XP_006717973.1:p.Asn319Thr
NM_001363518.1:c.956A>C	NP_001350447.1:p.Asn319Thr
XM_017016377.2:c.752A>C	XP_016871866.1:p.Asn251Thr
XM_017016378.2:c.572A>C	XP_016871867.1:p.Asn191Thr
NM_018344.6:c.1190A>C MANE Select	NP_060814.4:p.Asn397Thr
NM_001174098.2:c.*419A>C	NP_001167569.1:n.*419A>C
NM_001363518.2:c.956A>C	NP_001350447.1:p.Asn319Thr
NR_033413.2:n.1158A>C
NR_033414.2:n.931A>C