Canonical Allele Identifier: CA377117222

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122241T>A (hg19) ; chr10:g.71362484T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362484T>A , CM000672.2:g.71362484T>A	GRCh38
NC_000010.10:g.73122241T>A , CM000672.1:g.73122241T>A	GRCh37
NC_000010.9:g.72792247T>A	NCBI36
NG_017066.1:g.48232T>A
NG_017066.2:g.48226T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2780T>A
ENST00000373189.6:c.1304T>A MANE Select	ENSP00000362285.5:p.Leu435His
ENST00000479577.2:c.1070T>A	ENSP00000493995.1:p.Leu357His
ENST00000642198.1:c.*876T>A	ENSP00000494827.1:n.*876T>A
ENST00000642772.1:c.*94+6241T>A	ENSP00000495041.1:n.*94+6241T>A
ENST00000643042.1:c.925T>A	ENSP00000496674.1:n.925T>A
ENST00000643619.1:c.*887T>A	ENSP00000494378.1:n.*887T>A
ENST00000643752.1:c.*630T>A	ENSP00000495000.1:n.*630T>A
ENST00000644088.1:c.*625T>A	ENSP00000494066.1:n.*625T>A
ENST00000644591.1:c.*630T>A	ENSP00000496664.1:n.*630T>A
ENST00000644895.1:c.*99+6241T>A	ENSP00000493872.1:n.*99+6241T>A
ENST00000645345.1:c.*876T>A	ENSP00000495859.1:n.*876T>A
ENST00000647524.1:c.*887T>A	ENSP00000495077.1:n.*887T>A
ENST00000373189.5:c.1304T>A	ENSP00000362285.5:p.Leu435His
ENST00000469204.1:n.801T>A
NM_001174098.1:c.*533T>A	NP_001167569.1:n.*533T>A
NM_018344.5:c.1304T>A	NP_060814.4:p.Leu435His
NR_033413.1:n.1278T>A
NR_033414.1:n.1051T>A
XM_006717910.2:c.1070T>A	XP_006717973.1:p.Leu357His
NM_001363518.1:c.1070T>A	NP_001350447.1:p.Leu357His
XM_017016377.2:c.866T>A	XP_016871866.1:p.Leu289His
XM_017016378.2:c.686T>A	XP_016871867.1:p.Leu229His
NM_018344.6:c.1304T>A MANE Select	NP_060814.4:p.Leu435His
NM_001174098.2:c.*533T>A	NP_001167569.1:n.*533T>A
NM_001363518.2:c.1070T>A	NP_001350447.1:p.Leu357His
NR_033413.2:n.1272T>A
NR_033414.2:n.1045T>A