Canonical Allele Identifier: CA377113808

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1257784737
• gnomAD v2: 10-73121727-G-A
• gnomAD v3: 10-71361970-G-A
• gnomAD v4: 10-71361970-G-A
• MyVariant Identifiers: chr10:g.73121727G>A (hg19) ; chr10:g.71361970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361970G>A , CM000672.2:g.71361970G>A	GRCh38
NC_000010.10:g.73121727G>A , CM000672.1:g.73121727G>A	GRCh37
NC_000010.9:g.72791733G>A	NCBI36
NG_017066.1:g.47718G>A
NG_017066.2:g.47712G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2266G>A
ENST00000373189.6:c.790G>A MANE Select	ENSP00000362285.5:p.Val264Ile
ENST00000479577.2:c.556G>A	ENSP00000493995.1:p.Val186Ile
ENST00000642198.1:c.*362G>A	ENSP00000494827.1:n.*362G>A
ENST00000642772.1:c.*94+5727G>A	ENSP00000495041.1:n.*94+5727G>A
ENST00000643042.1:c.411G>A	ENSP00000496674.1:n.411G>A
ENST00000643619.1:c.*373G>A	ENSP00000494378.1:n.*373G>A
ENST00000643752.1:c.*116G>A	ENSP00000495000.1:n.*116G>A
ENST00000644088.1:c.*111G>A	ENSP00000494066.1:n.*111G>A
ENST00000644591.1:c.*116G>A	ENSP00000496664.1:n.*116G>A
ENST00000644895.1:c.*99+5727G>A	ENSP00000493872.1:n.*99+5727G>A
ENST00000645345.1:c.*362G>A	ENSP00000495859.1:n.*362G>A
ENST00000647524.1:c.*373G>A	ENSP00000495077.1:n.*373G>A
ENST00000373189.5:c.790G>A	ENSP00000362285.5:p.Val264Ile
ENST00000469204.1:n.287G>A
NM_001174098.1:c.*19G>A	NP_001167569.1:n.*19G>A
NM_018344.5:c.790G>A	NP_060814.4:p.Val264Ile
NR_033413.1:n.764G>A
NR_033414.1:n.537G>A
XM_006717910.2:c.556G>A	XP_006717973.1:p.Val186Ile
NM_001363518.1:c.556G>A	NP_001350447.1:p.Val186Ile
XM_017016377.2:c.352G>A	XP_016871866.1:p.Val118Ile
XM_017016378.2:c.172G>A	XP_016871867.1:p.Val58Ile
NM_018344.6:c.790G>A MANE Select	NP_060814.4:p.Val264Ile
NM_001174098.2:c.*19G>A	NP_001167569.1:n.*19G>A
NM_001363518.2:c.556G>A	NP_001350447.1:p.Val186Ile
NR_033413.2:n.758G>A
NR_033414.2:n.531G>A