Canonical Allele Identifier: CA5543174

Gene: SLC29A3

Linked Data

• dbSNP Id: rs778269138
• ExAC: 10:73122221 C / A
• gnomAD v2: 10-73122221-C-A
• MyVariant Identifiers: chr10:g.73122221C>A (hg19) ; chr10:g.71362464C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362464C>A , CM000672.2:g.71362464C>A	GRCh38
NC_000010.10:g.73122221C>A , CM000672.1:g.73122221C>A	GRCh37
NC_000010.9:g.72792227C>A	NCBI36
NG_017066.1:g.48212C>A
NG_017066.2:g.48206C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2760C>A
ENST00000373189.6:c.1284C>A MANE Select	ENSP00000362285.5:p.Tyr428Ter
ENST00000479577.2:c.1050C>A	ENSP00000493995.1:p.Tyr350Ter
ENST00000642198.1:c.*856C>A	ENSP00000494827.1:n.*856C>A
ENST00000642772.1:c.*94+6221C>A	ENSP00000495041.1:n.*94+6221C>A
ENST00000643042.1:c.905C>A	ENSP00000496674.1:n.905C>A
ENST00000643619.1:c.*867C>A	ENSP00000494378.1:n.*867C>A
ENST00000643752.1:c.*610C>A	ENSP00000495000.1:n.*610C>A
ENST00000644088.1:c.*605C>A	ENSP00000494066.1:n.*605C>A
ENST00000644591.1:c.*610C>A	ENSP00000496664.1:n.*610C>A
ENST00000644895.1:c.*99+6221C>A	ENSP00000493872.1:n.*99+6221C>A
ENST00000645345.1:c.*856C>A	ENSP00000495859.1:n.*856C>A
ENST00000647524.1:c.*867C>A	ENSP00000495077.1:n.*867C>A
ENST00000373189.5:c.1284C>A	ENSP00000362285.5:p.Tyr428Ter
ENST00000469204.1:n.781C>A
NM_001174098.1:c.*513C>A	NP_001167569.1:n.*513C>A
NM_018344.5:c.1284C>A	NP_060814.4:p.Tyr428Ter
NR_033413.1:n.1258C>A
NR_033414.1:n.1031C>A
XM_006717910.2:c.1050C>A	XP_006717973.1:p.Tyr350Ter
NM_001363518.1:c.1050C>A	NP_001350447.1:p.Tyr350Ter
XM_017016377.2:c.846C>A	XP_016871866.1:p.Tyr282Ter
XM_017016378.2:c.666C>A	XP_016871867.1:p.Tyr222Ter
NM_018344.6:c.1284C>A MANE Select	NP_060814.4:p.Tyr428Ter
NM_001174098.2:c.*513C>A	NP_001167569.1:n.*513C>A
NM_001363518.2:c.1050C>A	NP_001350447.1:p.Tyr350Ter
NR_033413.2:n.1252C>A
NR_033414.2:n.1025C>A