Canonical Allele Identifier: CA377115816

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362219-A-G
• MyVariant Identifiers: chr10:g.73121976A>G (hg19) ; chr10:g.71362219A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362219A>G , CM000672.2:g.71362219A>G	GRCh38
NC_000010.10:g.73121976A>G , CM000672.1:g.73121976A>G	GRCh37
NC_000010.9:g.72791982A>G	NCBI36
NG_017066.1:g.47967A>G
NG_017066.2:g.47961A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2515A>G
ENST00000373189.6:c.1039A>G MANE Select	ENSP00000362285.5:p.Ile347Val
ENST00000479577.2:c.805A>G	ENSP00000493995.1:p.Ile269Val
ENST00000642198.1:c.*611A>G	ENSP00000494827.1:n.*611A>G
ENST00000642772.1:c.*94+5976A>G	ENSP00000495041.1:n.*94+5976A>G
ENST00000643042.1:c.660A>G	ENSP00000496674.1:n.660A>G
ENST00000643619.1:c.*622A>G	ENSP00000494378.1:n.*622A>G
ENST00000643752.1:c.*365A>G	ENSP00000495000.1:n.*365A>G
ENST00000644088.1:c.*360A>G	ENSP00000494066.1:n.*360A>G
ENST00000644591.1:c.*365A>G	ENSP00000496664.1:n.*365A>G
ENST00000644895.1:c.*99+5976A>G	ENSP00000493872.1:n.*99+5976A>G
ENST00000645345.1:c.*611A>G	ENSP00000495859.1:n.*611A>G
ENST00000647524.1:c.*622A>G	ENSP00000495077.1:n.*622A>G
ENST00000373189.5:c.1039A>G	ENSP00000362285.5:p.Ile347Val
ENST00000469204.1:n.536A>G
NM_001174098.1:c.*268A>G	NP_001167569.1:n.*268A>G
NM_018344.5:c.1039A>G	NP_060814.4:p.Ile347Val
NR_033413.1:n.1013A>G
NR_033414.1:n.786A>G
XM_006717910.2:c.805A>G	XP_006717973.1:p.Ile269Val
NM_001363518.1:c.805A>G	NP_001350447.1:p.Ile269Val
XM_017016377.2:c.601A>G	XP_016871866.1:p.Ile201Val
XM_017016378.2:c.421A>G	XP_016871867.1:p.Ile141Val
NM_018344.6:c.1039A>G MANE Select	NP_060814.4:p.Ile347Val
NM_001174098.2:c.*268A>G	NP_001167569.1:n.*268A>G
NM_001363518.2:c.805A>G	NP_001350447.1:p.Ile269Val
NR_033413.2:n.1007A>G
NR_033414.2:n.780A>G