Canonical Allele Identifier: CA377117501

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122288G>T (hg19) ; chr10:g.71362531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362531G>T , CM000672.2:g.71362531G>T	GRCh38
NC_000010.10:g.73122288G>T , CM000672.1:g.73122288G>T	GRCh37
NC_000010.9:g.72792294G>T	NCBI36
NG_017066.1:g.48279G>T
NG_017066.2:g.48273G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2827G>T
ENST00000373189.6:c.1351G>T MANE Select	ENSP00000362285.5:p.Val451Leu
ENST00000479577.2:c.1117G>T	ENSP00000493995.1:p.Val373Leu
ENST00000642198.1:c.*923G>T	ENSP00000494827.1:n.*923G>T
ENST00000642772.1:c.*94+6288G>T	ENSP00000495041.1:n.*94+6288G>T
ENST00000643042.1:c.972G>T	ENSP00000496674.1:n.972G>T
ENST00000643619.1:c.*934G>T	ENSP00000494378.1:n.*934G>T
ENST00000643752.1:c.*677G>T	ENSP00000495000.1:n.*677G>T
ENST00000644088.1:c.*672G>T	ENSP00000494066.1:n.*672G>T
ENST00000644591.1:c.*677G>T	ENSP00000496664.1:n.*677G>T
ENST00000644895.1:c.*99+6288G>T	ENSP00000493872.1:n.*99+6288G>T
ENST00000645345.1:c.*923G>T	ENSP00000495859.1:n.*923G>T
ENST00000647524.1:c.*934G>T	ENSP00000495077.1:n.*934G>T
ENST00000373189.5:c.1351G>T	ENSP00000362285.5:p.Val451Leu
NM_001174098.1:c.*580G>T	NP_001167569.1:n.*580G>T
NM_018344.5:c.1351G>T	NP_060814.4:p.Val451Leu
NR_033413.1:n.1325G>T
NR_033414.1:n.1098G>T
XM_006717910.2:c.1117G>T	XP_006717973.1:p.Val373Leu
NM_001363518.1:c.1117G>T	NP_001350447.1:p.Val373Leu
XM_017016377.2:c.913G>T	XP_016871866.1:p.Val305Leu
XM_017016378.2:c.733G>T	XP_016871867.1:p.Val245Leu
NM_018344.6:c.1351G>T MANE Select	NP_060814.4:p.Val451Leu
NM_001174098.2:c.*580G>T	NP_001167569.1:n.*580G>T
NM_001363518.2:c.1117G>T	NP_001350447.1:p.Val373Leu
NR_033413.2:n.1319G>T
NR_033414.2:n.1092G>T