Canonical Allele Identifier: CA377117980

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362595-T-A
• MyVariant Identifiers: chr10:g.73122352T>A (hg19) ; chr10:g.71362595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362595T>A , CM000672.2:g.71362595T>A	GRCh38
NC_000010.10:g.73122352T>A , CM000672.1:g.73122352T>A	GRCh37
NC_000010.9:g.72792358T>A	NCBI36
NG_017066.1:g.48343T>A
NG_017066.2:g.48337T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2891T>A
ENST00000373189.6:c.1415T>A MANE Select	ENSP00000362285.5:p.Val472Glu
ENST00000479577.2:c.1181T>A	ENSP00000493995.1:p.Val394Glu
ENST00000642198.1:c.*987T>A	ENSP00000494827.1:n.*987T>A
ENST00000642772.1:c.*94+6352T>A	ENSP00000495041.1:n.*94+6352T>A
ENST00000643042.1:c.1036T>A	ENSP00000496674.1:n.1036T>A
ENST00000643619.1:c.*998T>A	ENSP00000494378.1:n.*998T>A
ENST00000643752.1:c.*741T>A	ENSP00000495000.1:n.*741T>A
ENST00000644088.1:c.*736T>A	ENSP00000494066.1:n.*736T>A
ENST00000644591.1:c.*741T>A	ENSP00000496664.1:n.*741T>A
ENST00000644895.1:c.*99+6352T>A	ENSP00000493872.1:n.*99+6352T>A
ENST00000645345.1:c.*987T>A	ENSP00000495859.1:n.*987T>A
ENST00000647524.1:c.*998T>A	ENSP00000495077.1:n.*998T>A
ENST00000373189.5:c.1415T>A	ENSP00000362285.5:p.Val472Glu
NM_001174098.1:c.*644T>A	NP_001167569.1:n.*644T>A
NM_018344.5:c.1415T>A	NP_060814.4:p.Val472Glu
NR_033413.1:n.1389T>A
NR_033414.1:n.1162T>A
XM_006717910.2:c.1181T>A	XP_006717973.1:p.Val394Glu
NM_001363518.1:c.1181T>A	NP_001350447.1:p.Val394Glu
XM_017016377.2:c.977T>A	XP_016871866.1:p.Val326Glu
XM_017016378.2:c.797T>A	XP_016871867.1:p.Val266Glu
NM_018344.6:c.1415T>A MANE Select	NP_060814.4:p.Val472Glu
NM_001174098.2:c.*644T>A	NP_001167569.1:n.*644T>A
NM_001363518.2:c.1181T>A	NP_001350447.1:p.Val394Glu
NR_033413.2:n.1383T>A
NR_033414.2:n.1156T>A