Canonical Allele Identifier: CA470281708

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1383922546
• gnomAD v3: 10-71362566-A-C
• gnomAD v4: 10-71362566-A-C
• MyVariant Identifiers: chr10:g.73122323A>C (hg19) ; chr10:g.71362566A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362566A>C , CM000672.2:g.71362566A>C	GRCh38
NC_000010.10:g.73122323A>C , CM000672.1:g.73122323A>C	GRCh37
NC_000010.9:g.72792329A>C	NCBI36
NG_017066.1:g.48314A>C
NG_017066.2:g.48308A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2862A>C
ENST00000373189.6:c.1386A>C MANE Select	ENSP00000362285.5:p.Thr462=
ENST00000479577.2:c.1152A>C	ENSP00000493995.1:p.Thr384=
ENST00000642198.1:c.*958A>C	ENSP00000494827.1:n.*958A>C
ENST00000642772.1:c.*94+6323A>C	ENSP00000495041.1:n.*94+6323A>C
ENST00000643042.1:c.1007A>C	ENSP00000496674.1:n.1007A>C
ENST00000643619.1:c.*969A>C	ENSP00000494378.1:n.*969A>C
ENST00000643752.1:c.*712A>C	ENSP00000495000.1:n.*712A>C
ENST00000644088.1:c.*707A>C	ENSP00000494066.1:n.*707A>C
ENST00000644591.1:c.*712A>C	ENSP00000496664.1:n.*712A>C
ENST00000644895.1:c.*99+6323A>C	ENSP00000493872.1:n.*99+6323A>C
ENST00000645345.1:c.*958A>C	ENSP00000495859.1:n.*958A>C
ENST00000647524.1:c.*969A>C	ENSP00000495077.1:n.*969A>C
ENST00000373189.5:c.1386A>C	ENSP00000362285.5:p.Thr462=
NM_001174098.1:c.*615A>C	NP_001167569.1:n.*615A>C
NM_018344.5:c.1386A>C	NP_060814.4:p.Thr462=
NR_033413.1:n.1360A>C
NR_033414.1:n.1133A>C
XM_006717910.2:c.1152A>C	XP_006717973.1:p.Thr384=
NM_001363518.1:c.1152A>C	NP_001350447.1:p.Thr384=
XM_017016377.2:c.948A>C	XP_016871866.1:p.Thr316=
XM_017016378.2:c.768A>C	XP_016871867.1:p.Thr256=
NM_018344.6:c.1386A>C MANE Select	NP_060814.4:p.Thr462=
NM_001174098.2:c.*615A>C	NP_001167569.1:n.*615A>C
NM_001363518.2:c.1152A>C	NP_001350447.1:p.Thr384=
NR_033413.2:n.1354A>C
NR_033414.2:n.1127A>C