Canonical Allele Identifier: CA377114133

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 2123432
• ClinVar RCV Id: RCV003035410
• MyVariant Identifiers: chr10:g.73121776C>G (hg19) ; chr10:g.71362019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362019C>G , CM000672.2:g.71362019C>G	GRCh38
NC_000010.10:g.73121776C>G , CM000672.1:g.73121776C>G	GRCh37
NC_000010.9:g.72791782C>G	NCBI36
NG_017066.1:g.47767C>G
NG_017066.2:g.47761C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2315C>G
ENST00000373189.6:c.839C>G MANE Select	ENSP00000362285.5:p.Ser280Cys
ENST00000479577.2:c.605C>G	ENSP00000493995.1:p.Ser202Cys
ENST00000642198.1:c.*411C>G	ENSP00000494827.1:n.*411C>G
ENST00000642772.1:c.*94+5776C>G	ENSP00000495041.1:n.*94+5776C>G
ENST00000643042.1:c.460C>G	ENSP00000496674.1:n.460C>G
ENST00000643619.1:c.*422C>G	ENSP00000494378.1:n.*422C>G
ENST00000643752.1:c.*165C>G	ENSP00000495000.1:n.*165C>G
ENST00000644088.1:c.*160C>G	ENSP00000494066.1:n.*160C>G
ENST00000644591.1:c.*165C>G	ENSP00000496664.1:n.*165C>G
ENST00000644895.1:c.*99+5776C>G	ENSP00000493872.1:n.*99+5776C>G
ENST00000645345.1:c.*411C>G	ENSP00000495859.1:n.*411C>G
ENST00000647524.1:c.*422C>G	ENSP00000495077.1:n.*422C>G
ENST00000373189.5:c.839C>G	ENSP00000362285.5:p.Ser280Cys
ENST00000469204.1:n.336C>G
NM_001174098.1:c.*68C>G	NP_001167569.1:n.*68C>G
NM_018344.5:c.839C>G	NP_060814.4:p.Ser280Cys
NR_033413.1:n.813C>G
NR_033414.1:n.586C>G
XM_006717910.2:c.605C>G	XP_006717973.1:p.Ser202Cys
NM_001363518.1:c.605C>G	NP_001350447.1:p.Ser202Cys
XM_017016377.2:c.401C>G	XP_016871866.1:p.Ser134Cys
XM_017016378.2:c.221C>G	XP_016871867.1:p.Ser74Cys
NM_018344.6:c.839C>G MANE Select	NP_060814.4:p.Ser280Cys
NM_001174098.2:c.*68C>G	NP_001167569.1:n.*68C>G
NM_001363518.2:c.605C>G	NP_001350447.1:p.Ser202Cys
NR_033413.2:n.807C>G
NR_033414.2:n.580C>G