Canonical Allele Identifier: CA377114331

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121805T>G (hg19) ; chr10:g.71362048T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362048T>G , CM000672.2:g.71362048T>G	GRCh38
NC_000010.10:g.73121805T>G , CM000672.1:g.73121805T>G	GRCh37
NC_000010.9:g.72791811T>G	NCBI36
NG_017066.1:g.47796T>G
NG_017066.2:g.47790T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2344T>G
ENST00000373189.6:c.868T>G MANE Select	ENSP00000362285.5:p.Phe290Val
ENST00000479577.2:c.634T>G	ENSP00000493995.1:p.Phe212Val
ENST00000642198.1:c.*440T>G	ENSP00000494827.1:n.*440T>G
ENST00000642772.1:c.*94+5805T>G	ENSP00000495041.1:n.*94+5805T>G
ENST00000643042.1:c.489T>G	ENSP00000496674.1:n.489T>G
ENST00000643619.1:c.*451T>G	ENSP00000494378.1:n.*451T>G
ENST00000643752.1:c.*194T>G	ENSP00000495000.1:n.*194T>G
ENST00000644088.1:c.*189T>G	ENSP00000494066.1:n.*189T>G
ENST00000644591.1:c.*194T>G	ENSP00000496664.1:n.*194T>G
ENST00000644895.1:c.*99+5805T>G	ENSP00000493872.1:n.*99+5805T>G
ENST00000645345.1:c.*440T>G	ENSP00000495859.1:n.*440T>G
ENST00000647524.1:c.*451T>G	ENSP00000495077.1:n.*451T>G
ENST00000373189.5:c.868T>G	ENSP00000362285.5:p.Phe290Val
ENST00000469204.1:n.365T>G
NM_001174098.1:c.*97T>G	NP_001167569.1:n.*97T>G
NM_018344.5:c.868T>G	NP_060814.4:p.Phe290Val
NR_033413.1:n.842T>G
NR_033414.1:n.615T>G
XM_006717910.2:c.634T>G	XP_006717973.1:p.Phe212Val
NM_001363518.1:c.634T>G	NP_001350447.1:p.Phe212Val
XM_017016377.2:c.430T>G	XP_016871866.1:p.Phe144Val
XM_017016378.2:c.250T>G	XP_016871867.1:p.Phe84Val
NM_018344.6:c.868T>G MANE Select	NP_060814.4:p.Phe290Val
NM_001174098.2:c.*97T>G	NP_001167569.1:n.*97T>G
NM_001363518.2:c.634T>G	NP_001350447.1:p.Phe212Val
NR_033413.2:n.836T>G
NR_033414.2:n.609T>G