Canonical Allele Identifier: CA209388414

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1041013536
• gnomAD v4: 10-71362723-G-A
• MyVariant Identifiers: chr10:g.73122480G>A (hg19) ; chr10:g.71362723G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362723G>A , CM000672.2:g.71362723G>A	GRCh38
NC_000010.10:g.73122480G>A , CM000672.1:g.73122480G>A	GRCh37
NC_000010.9:g.72792486G>A	NCBI36
NG_017066.1:g.48471G>A
NG_017066.2:g.48465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.3019G>A
ENST00000373189.6:c.*115G>A MANE Select	ENSP00000362285.5:n.*115G>A
ENST00000479577.2:c.*115G>A	ENSP00000493995.1:n.*115G>A
ENST00000642198.1:c.*1115G>A	ENSP00000494827.1:n.*1115G>A
ENST00000642772.1:c.*94+6480G>A	ENSP00000495041.1:n.*94+6480G>A
ENST00000643042.1:c.1164G>A	ENSP00000496674.1:n.1164G>A
ENST00000643619.1:c.*1126G>A	ENSP00000494378.1:n.*1126G>A
ENST00000643752.1:c.*869G>A	ENSP00000495000.1:n.*869G>A
ENST00000644088.1:c.*864G>A	ENSP00000494066.1:n.*864G>A
ENST00000644591.1:c.*869G>A	ENSP00000496664.1:n.*869G>A
ENST00000644895.1:c.*99+6480G>A	ENSP00000493872.1:n.*99+6480G>A
ENST00000645345.1:c.*1115G>A	ENSP00000495859.1:n.*1115G>A
ENST00000647524.1:c.*1126G>A	ENSP00000495077.1:n.*1126G>A
ENST00000373189.5:c.*115G>A	ENSP00000362285.5:n.*115G>A
NM_001174098.1:c.*772G>A	NP_001167569.1:n.*772G>A
NM_018344.5:c.*115G>A	NP_060814.4:n.*115G>A
NR_033413.1:n.1517G>A
NR_033414.1:n.1290G>A
XM_006717910.2:c.*115G>A	XP_006717973.1:n.*115G>A
NM_001363518.1:c.*115G>A	NP_001350447.1:n.*115G>A
XM_017016377.2:c.*115G>A	XP_016871866.1:n.*115G>A
XM_017016378.2:c.*115G>A	XP_016871867.1:n.*115G>A
NM_018344.6:c.*115G>A MANE Select	NP_060814.4:n.*115G>A
NM_001174098.2:c.*772G>A	NP_001167569.1:n.*772G>A
NM_001363518.2:c.*115G>A	NP_001350447.1:n.*115G>A
NR_033413.2:n.1511G>A
NR_033414.2:n.1284G>A