Canonical Allele Identifier: CA5543128

Gene: SLC29A3

Linked Data

• dbSNP Id: rs148092033
• ExAC: 10:73122083 C / G
• gnomAD v2: 10-73122083-C-G
• gnomAD v3: 10-71362326-C-G
• gnomAD v4: 10-71362326-C-G
• MyVariant Identifiers: chr10:g.73122083C>G (hg19) ; chr10:g.71362326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362326C>G , CM000672.2:g.71362326C>G	GRCh38
NC_000010.10:g.73122083C>G , CM000672.1:g.73122083C>G	GRCh37
NC_000010.9:g.72792089C>G	NCBI36
NG_017066.1:g.48074C>G
NG_017066.2:g.48068C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2622C>G
ENST00000373189.6:c.1146C>G MANE Select	ENSP00000362285.5:p.Phe382Leu
ENST00000479577.2:c.912C>G	ENSP00000493995.1:p.Phe304Leu
ENST00000642198.1:c.*718C>G	ENSP00000494827.1:n.*718C>G
ENST00000642772.1:c.*94+6083C>G	ENSP00000495041.1:n.*94+6083C>G
ENST00000643042.1:c.767C>G	ENSP00000496674.1:n.767C>G
ENST00000643619.1:c.*729C>G	ENSP00000494378.1:n.*729C>G
ENST00000643752.1:c.*472C>G	ENSP00000495000.1:n.*472C>G
ENST00000644088.1:c.*467C>G	ENSP00000494066.1:n.*467C>G
ENST00000644591.1:c.*472C>G	ENSP00000496664.1:n.*472C>G
ENST00000644895.1:c.*99+6083C>G	ENSP00000493872.1:n.*99+6083C>G
ENST00000645345.1:c.*718C>G	ENSP00000495859.1:n.*718C>G
ENST00000647524.1:c.*729C>G	ENSP00000495077.1:n.*729C>G
ENST00000373189.5:c.1146C>G	ENSP00000362285.5:p.Phe382Leu
ENST00000469204.1:n.643C>G
NM_001174098.1:c.*375C>G	NP_001167569.1:n.*375C>G
NM_018344.5:c.1146C>G	NP_060814.4:p.Phe382Leu
NR_033413.1:n.1120C>G
NR_033414.1:n.893C>G
XM_006717910.2:c.912C>G	XP_006717973.1:p.Phe304Leu
NM_001363518.1:c.912C>G	NP_001350447.1:p.Phe304Leu
XM_017016377.2:c.708C>G	XP_016871866.1:p.Phe236Leu
XM_017016378.2:c.528C>G	XP_016871867.1:p.Phe176Leu
NM_018344.6:c.1146C>G MANE Select	NP_060814.4:p.Phe382Leu
NM_001174098.2:c.*375C>G	NP_001167569.1:n.*375C>G
NM_001363518.2:c.912C>G	NP_001350447.1:p.Phe304Leu
NR_033413.2:n.1114C>G
NR_033414.2:n.887C>G