Canonical Allele Identifier: CA5543124

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 732654
• ClinVar RCV Id: RCV000907838
• dbSNP Id: rs141392389
• ExAC: 10:73122071 G / A
• gnomAD v2: 10-73122071-G-A
• gnomAD v3: 10-71362314-G-A
• gnomAD v4: 10-71362314-G-A
• MyVariant Identifiers: chr10:g.73122071G>A (hg19) ; chr10:g.71362314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362314G>A , CM000672.2:g.71362314G>A	GRCh38
NC_000010.10:g.73122071G>A , CM000672.1:g.73122071G>A	GRCh37
NC_000010.9:g.72792077G>A	NCBI36
NG_017066.1:g.48062G>A
NG_017066.2:g.48056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2610G>A
ENST00000373189.6:c.1134G>A MANE Select	ENSP00000362285.5:p.Ala378=
ENST00000479577.2:c.900G>A	ENSP00000493995.1:p.Ala300=
ENST00000642198.1:c.*706G>A	ENSP00000494827.1:n.*706G>A
ENST00000642772.1:c.*94+6071G>A	ENSP00000495041.1:n.*94+6071G>A
ENST00000643042.1:c.755G>A	ENSP00000496674.1:n.755G>A
ENST00000643619.1:c.*717G>A	ENSP00000494378.1:n.*717G>A
ENST00000643752.1:c.*460G>A	ENSP00000495000.1:n.*460G>A
ENST00000644088.1:c.*455G>A	ENSP00000494066.1:n.*455G>A
ENST00000644591.1:c.*460G>A	ENSP00000496664.1:n.*460G>A
ENST00000644895.1:c.*99+6071G>A	ENSP00000493872.1:n.*99+6071G>A
ENST00000645345.1:c.*706G>A	ENSP00000495859.1:n.*706G>A
ENST00000647524.1:c.*717G>A	ENSP00000495077.1:n.*717G>A
ENST00000373189.5:c.1134G>A	ENSP00000362285.5:p.Ala378=
ENST00000469204.1:n.631G>A
NM_001174098.1:c.*363G>A	NP_001167569.1:n.*363G>A
NM_018344.5:c.1134G>A	NP_060814.4:p.Ala378=
NR_033413.1:n.1108G>A
NR_033414.1:n.881G>A
XM_006717910.2:c.900G>A	XP_006717973.1:p.Ala300=
NM_001363518.1:c.900G>A	NP_001350447.1:p.Ala300=
XM_017016377.2:c.696G>A	XP_016871866.1:p.Ala232=
XM_017016378.2:c.516G>A	XP_016871867.1:p.Ala172=
NM_018344.6:c.1134G>A MANE Select	NP_060814.4:p.Ala378=
NM_001174098.2:c.*363G>A	NP_001167569.1:n.*363G>A
NM_001363518.2:c.900G>A	NP_001350447.1:p.Ala300=
NR_033413.2:n.1102G>A
NR_033414.2:n.875G>A