Canonical Allele Identifier: CA377116933

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122088T>A (hg19) ; chr10:g.71362331T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362331T>A , CM000672.2:g.71362331T>A	GRCh38
NC_000010.10:g.73122088T>A , CM000672.1:g.73122088T>A	GRCh37
NC_000010.9:g.72792094T>A	NCBI36
NG_017066.1:g.48079T>A
NG_017066.2:g.48073T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2627T>A
ENST00000373189.6:c.1151T>A MANE Select	ENSP00000362285.5:p.Leu384His
ENST00000479577.2:c.917T>A	ENSP00000493995.1:p.Leu306His
ENST00000642198.1:c.*723T>A	ENSP00000494827.1:n.*723T>A
ENST00000642772.1:c.*94+6088T>A	ENSP00000495041.1:n.*94+6088T>A
ENST00000643042.1:c.772T>A	ENSP00000496674.1:n.772T>A
ENST00000643619.1:c.*734T>A	ENSP00000494378.1:n.*734T>A
ENST00000643752.1:c.*477T>A	ENSP00000495000.1:n.*477T>A
ENST00000644088.1:c.*472T>A	ENSP00000494066.1:n.*472T>A
ENST00000644591.1:c.*477T>A	ENSP00000496664.1:n.*477T>A
ENST00000644895.1:c.*99+6088T>A	ENSP00000493872.1:n.*99+6088T>A
ENST00000645345.1:c.*723T>A	ENSP00000495859.1:n.*723T>A
ENST00000647524.1:c.*734T>A	ENSP00000495077.1:n.*734T>A
ENST00000373189.5:c.1151T>A	ENSP00000362285.5:p.Leu384His
ENST00000469204.1:n.648T>A
NM_001174098.1:c.*380T>A	NP_001167569.1:n.*380T>A
NM_018344.5:c.1151T>A	NP_060814.4:p.Leu384His
NR_033413.1:n.1125T>A
NR_033414.1:n.898T>A
XM_006717910.2:c.917T>A	XP_006717973.1:p.Leu306His
NM_001363518.1:c.917T>A	NP_001350447.1:p.Leu306His
XM_017016377.2:c.713T>A	XP_016871866.1:p.Leu238His
XM_017016378.2:c.533T>A	XP_016871867.1:p.Leu178His
NM_018344.6:c.1151T>A MANE Select	NP_060814.4:p.Leu384His
NM_001174098.2:c.*380T>A	NP_001167569.1:n.*380T>A
NM_001363518.2:c.917T>A	NP_001350447.1:p.Leu306His
NR_033413.2:n.1119T>A
NR_033414.2:n.892T>A