Canonical Allele Identifier: CA209387794

Gene: SLC29A3

Linked Data

• dbSNP Id: rs750274214
• MyVariant Identifiers: chr10:g.73121824C>T (hg19) ; chr10:g.71362067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362067C>T , CM000672.2:g.71362067C>T	GRCh38
NC_000010.10:g.73121824C>T , CM000672.1:g.73121824C>T	GRCh37
NC_000010.9:g.72791830C>T	NCBI36
NG_017066.1:g.47815C>T
NG_017066.2:g.47809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2363C>T
ENST00000373189.6:c.887C>T MANE Select	ENSP00000362285.5:p.Pro296Leu
ENST00000479577.2:c.653C>T	ENSP00000493995.1:p.Pro218Leu
ENST00000642198.1:c.*459C>T	ENSP00000494827.1:n.*459C>T
ENST00000642772.1:c.*94+5824C>T	ENSP00000495041.1:n.*94+5824C>T
ENST00000643042.1:c.508C>T	ENSP00000496674.1:n.508C>T
ENST00000643619.1:c.*470C>T	ENSP00000494378.1:n.*470C>T
ENST00000643752.1:c.*213C>T	ENSP00000495000.1:n.*213C>T
ENST00000644088.1:c.*208C>T	ENSP00000494066.1:n.*208C>T
ENST00000644591.1:c.*213C>T	ENSP00000496664.1:n.*213C>T
ENST00000644895.1:c.*99+5824C>T	ENSP00000493872.1:n.*99+5824C>T
ENST00000645345.1:c.*459C>T	ENSP00000495859.1:n.*459C>T
ENST00000647524.1:c.*470C>T	ENSP00000495077.1:n.*470C>T
ENST00000373189.5:c.887C>T	ENSP00000362285.5:p.Pro296Leu
ENST00000469204.1:n.384C>T
NM_001174098.1:c.*116C>T	NP_001167569.1:n.*116C>T
NM_018344.5:c.887C>T	NP_060814.4:p.Pro296Leu
NR_033413.1:n.861C>T
NR_033414.1:n.634C>T
XM_006717910.2:c.653C>T	XP_006717973.1:p.Pro218Leu
NM_001363518.1:c.653C>T	NP_001350447.1:p.Pro218Leu
XM_017016377.2:c.449C>T	XP_016871866.1:p.Pro150Leu
XM_017016378.2:c.269C>T	XP_016871867.1:p.Pro90Leu
NM_018344.6:c.887C>T MANE Select	NP_060814.4:p.Pro296Leu
NM_001174098.2:c.*116C>T	NP_001167569.1:n.*116C>T
NM_001363518.2:c.653C>T	NP_001350447.1:p.Pro218Leu
NR_033413.2:n.855C>T
NR_033414.2:n.628C>T