Canonical Allele Identifier: CA5543066

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 300365
• ClinVar RCV Id: RCV000367100
• dbSNP Id: rs566110994
• ExAC: 10:73121792 G / A
• gnomAD v2: 10-73121792-G-A
• gnomAD v3: 10-71362035-G-A
• gnomAD v4: 10-71362035-G-A
• COSMIC: COSM2160820
• MyVariant Identifiers: chr10:g.73121792G>A (hg19) ; chr10:g.71362035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362035G>A , CM000672.2:g.71362035G>A	GRCh38
NC_000010.10:g.73121792G>A , CM000672.1:g.73121792G>A	GRCh37
NC_000010.9:g.72791798G>A	NCBI36
NG_017066.1:g.47783G>A
NG_017066.2:g.47777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2331G>A
ENST00000373189.6:c.855G>A MANE Select	ENSP00000362285.5:p.Ser285=
ENST00000479577.2:c.621G>A	ENSP00000493995.1:p.Ser207=
ENST00000642198.1:c.*427G>A	ENSP00000494827.1:n.*427G>A
ENST00000642772.1:c.*94+5792G>A	ENSP00000495041.1:n.*94+5792G>A
ENST00000643042.1:c.476G>A	ENSP00000496674.1:n.476G>A
ENST00000643619.1:c.*438G>A	ENSP00000494378.1:n.*438G>A
ENST00000643752.1:c.*181G>A	ENSP00000495000.1:n.*181G>A
ENST00000644088.1:c.*176G>A	ENSP00000494066.1:n.*176G>A
ENST00000644591.1:c.*181G>A	ENSP00000496664.1:n.*181G>A
ENST00000644895.1:c.*99+5792G>A	ENSP00000493872.1:n.*99+5792G>A
ENST00000645345.1:c.*427G>A	ENSP00000495859.1:n.*427G>A
ENST00000647524.1:c.*438G>A	ENSP00000495077.1:n.*438G>A
ENST00000373189.5:c.855G>A	ENSP00000362285.5:p.Ser285=
ENST00000469204.1:n.352G>A
NM_001174098.1:c.*84G>A	NP_001167569.1:n.*84G>A
NM_018344.5:c.855G>A	NP_060814.4:p.Ser285=
NR_033413.1:n.829G>A
NR_033414.1:n.602G>A
XM_006717910.2:c.621G>A	XP_006717973.1:p.Ser207=
NM_001363518.1:c.621G>A	NP_001350447.1:p.Ser207=
XM_017016377.2:c.417G>A	XP_016871866.1:p.Ser139=
XM_017016378.2:c.237G>A	XP_016871867.1:p.Ser79=
NM_018344.6:c.855G>A MANE Select	NP_060814.4:p.Ser285=
NM_001174098.2:c.*84G>A	NP_001167569.1:n.*84G>A
NM_001363518.2:c.621G>A	NP_001350447.1:p.Ser207=
NR_033413.2:n.823G>A
NR_033414.2:n.596G>A