Canonical Allele Identifier: CA377114919

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1245455339
• gnomAD v2: 10-73121868-T-G
• gnomAD v4: 10-71362111-T-G
• MyVariant Identifiers: chr10:g.73121868T>G (hg19) ; chr10:g.71362111T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362111T>G , CM000672.2:g.71362111T>G	GRCh38
NC_000010.10:g.73121868T>G , CM000672.1:g.73121868T>G	GRCh37
NC_000010.9:g.72791874T>G	NCBI36
NG_017066.1:g.47859T>G
NG_017066.2:g.47853T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2407T>G
ENST00000373189.6:c.931T>G MANE Select	ENSP00000362285.5:p.Cys311Gly
ENST00000479577.2:c.697T>G	ENSP00000493995.1:p.Cys233Gly
ENST00000642198.1:c.*503T>G	ENSP00000494827.1:n.*503T>G
ENST00000642772.1:c.*94+5868T>G	ENSP00000495041.1:n.*94+5868T>G
ENST00000643042.1:c.552T>G	ENSP00000496674.1:n.552T>G
ENST00000643619.1:c.*514T>G	ENSP00000494378.1:n.*514T>G
ENST00000643752.1:c.*257T>G	ENSP00000495000.1:n.*257T>G
ENST00000644088.1:c.*252T>G	ENSP00000494066.1:n.*252T>G
ENST00000644591.1:c.*257T>G	ENSP00000496664.1:n.*257T>G
ENST00000644895.1:c.*99+5868T>G	ENSP00000493872.1:n.*99+5868T>G
ENST00000645345.1:c.*503T>G	ENSP00000495859.1:n.*503T>G
ENST00000647524.1:c.*514T>G	ENSP00000495077.1:n.*514T>G
ENST00000373189.5:c.931T>G	ENSP00000362285.5:p.Cys311Gly
ENST00000469204.1:n.428T>G
NM_001174098.1:c.*160T>G	NP_001167569.1:n.*160T>G
NM_018344.5:c.931T>G	NP_060814.4:p.Cys311Gly
NR_033413.1:n.905T>G
NR_033414.1:n.678T>G
XM_006717910.2:c.697T>G	XP_006717973.1:p.Cys233Gly
NM_001363518.1:c.697T>G	NP_001350447.1:p.Cys233Gly
XM_017016377.2:c.493T>G	XP_016871866.1:p.Cys165Gly
XM_017016378.2:c.313T>G	XP_016871867.1:p.Cys105Gly
NM_018344.6:c.931T>G MANE Select	NP_060814.4:p.Cys311Gly
NM_001174098.2:c.*160T>G	NP_001167569.1:n.*160T>G
NM_001363518.2:c.697T>G	NP_001350447.1:p.Cys233Gly
NR_033413.2:n.899T>G
NR_033414.2:n.672T>G