Canonical Allele Identifier: CA377114502

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1427091
• ClinVar RCV Id: RCV001949893
• dbSNP Id: rs779969612
• MyVariant Identifiers: chr10:g.73121827C>T (hg19) ; chr10:g.71362070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362070C>T , CM000672.2:g.71362070C>T	GRCh38
NC_000010.10:g.73121827C>T , CM000672.1:g.73121827C>T	GRCh37
NC_000010.9:g.72791833C>T	NCBI36
NG_017066.1:g.47818C>T
NG_017066.2:g.47812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2366C>T
ENST00000373189.6:c.890C>T MANE Select	ENSP00000362285.5:p.Pro297Leu
ENST00000479577.2:c.656C>T	ENSP00000493995.1:p.Pro219Leu
ENST00000642198.1:c.*462C>T	ENSP00000494827.1:n.*462C>T
ENST00000642772.1:c.*94+5827C>T	ENSP00000495041.1:n.*94+5827C>T
ENST00000643042.1:c.511C>T	ENSP00000496674.1:n.511C>T
ENST00000643619.1:c.*473C>T	ENSP00000494378.1:n.*473C>T
ENST00000643752.1:c.*216C>T	ENSP00000495000.1:n.*216C>T
ENST00000644088.1:c.*211C>T	ENSP00000494066.1:n.*211C>T
ENST00000644591.1:c.*216C>T	ENSP00000496664.1:n.*216C>T
ENST00000644895.1:c.*99+5827C>T	ENSP00000493872.1:n.*99+5827C>T
ENST00000645345.1:c.*462C>T	ENSP00000495859.1:n.*462C>T
ENST00000647524.1:c.*473C>T	ENSP00000495077.1:n.*473C>T
ENST00000373189.5:c.890C>T	ENSP00000362285.5:p.Pro297Leu
ENST00000469204.1:n.387C>T
NM_001174098.1:c.*119C>T	NP_001167569.1:n.*119C>T
NM_018344.5:c.890C>T	NP_060814.4:p.Pro297Leu
NR_033413.1:n.864C>T
NR_033414.1:n.637C>T
XM_006717910.2:c.656C>T	XP_006717973.1:p.Pro219Leu
NM_001363518.1:c.656C>T	NP_001350447.1:p.Pro219Leu
XM_017016377.2:c.452C>T	XP_016871866.1:p.Pro151Leu
XM_017016378.2:c.272C>T	XP_016871867.1:p.Pro91Leu
NM_018344.6:c.890C>T MANE Select	NP_060814.4:p.Pro297Leu
NM_001174098.2:c.*119C>T	NP_001167569.1:n.*119C>T
NM_001363518.2:c.656C>T	NP_001350447.1:p.Pro219Leu
NR_033413.2:n.858C>T
NR_033414.2:n.631C>T