Canonical Allele Identifier: CA377117213

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362478-C-T
• MyVariant Identifiers: chr10:g.73122235C>T (hg19) ; chr10:g.71362478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362478C>T , CM000672.2:g.71362478C>T	GRCh38
NC_000010.10:g.73122235C>T , CM000672.1:g.73122235C>T	GRCh37
NC_000010.9:g.72792241C>T	NCBI36
NG_017066.1:g.48226C>T
NG_017066.2:g.48220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2774C>T
ENST00000373189.6:c.1298C>T MANE Select	ENSP00000362285.5:p.Ala433Val
ENST00000479577.2:c.1064C>T	ENSP00000493995.1:p.Ala355Val
ENST00000642198.1:c.*870C>T	ENSP00000494827.1:n.*870C>T
ENST00000642772.1:c.*94+6235C>T	ENSP00000495041.1:n.*94+6235C>T
ENST00000643042.1:c.919C>T	ENSP00000496674.1:n.919C>T
ENST00000643619.1:c.*881C>T	ENSP00000494378.1:n.*881C>T
ENST00000643752.1:c.*624C>T	ENSP00000495000.1:n.*624C>T
ENST00000644088.1:c.*619C>T	ENSP00000494066.1:n.*619C>T
ENST00000644591.1:c.*624C>T	ENSP00000496664.1:n.*624C>T
ENST00000644895.1:c.*99+6235C>T	ENSP00000493872.1:n.*99+6235C>T
ENST00000645345.1:c.*870C>T	ENSP00000495859.1:n.*870C>T
ENST00000647524.1:c.*881C>T	ENSP00000495077.1:n.*881C>T
ENST00000373189.5:c.1298C>T	ENSP00000362285.5:p.Ala433Val
ENST00000469204.1:n.795C>T
NM_001174098.1:c.*527C>T	NP_001167569.1:n.*527C>T
NM_018344.5:c.1298C>T	NP_060814.4:p.Ala433Val
NR_033413.1:n.1272C>T
NR_033414.1:n.1045C>T
XM_006717910.2:c.1064C>T	XP_006717973.1:p.Ala355Val
NM_001363518.1:c.1064C>T	NP_001350447.1:p.Ala355Val
XM_017016377.2:c.860C>T	XP_016871866.1:p.Ala287Val
XM_017016378.2:c.680C>T	XP_016871867.1:p.Ala227Val
NM_018344.6:c.1298C>T MANE Select	NP_060814.4:p.Ala433Val
NM_001174098.2:c.*527C>T	NP_001167569.1:n.*527C>T
NM_001363518.2:c.1064C>T	NP_001350447.1:p.Ala355Val
NR_033413.2:n.1266C>T
NR_033414.2:n.1039C>T