Canonical Allele Identifier: CA377113860

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1969970
• ClinVar RCV Id: RCV002760283
• MyVariant Identifiers: chr10:g.73121739C>T (hg19) ; chr10:g.71361982C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361982C>T , CM000672.2:g.71361982C>T	GRCh38
NC_000010.10:g.73121739C>T , CM000672.1:g.73121739C>T	GRCh37
NC_000010.9:g.72791745C>T	NCBI36
NG_017066.1:g.47730C>T
NG_017066.2:g.47724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2278C>T
ENST00000373189.6:c.802C>T MANE Select	ENSP00000362285.5:p.His268Tyr
ENST00000479577.2:c.568C>T	ENSP00000493995.1:p.His190Tyr
ENST00000642198.1:c.*374C>T	ENSP00000494827.1:n.*374C>T
ENST00000642772.1:c.*94+5739C>T	ENSP00000495041.1:n.*94+5739C>T
ENST00000643042.1:c.423C>T	ENSP00000496674.1:n.423C>T
ENST00000643619.1:c.*385C>T	ENSP00000494378.1:n.*385C>T
ENST00000643752.1:c.*128C>T	ENSP00000495000.1:n.*128C>T
ENST00000644088.1:c.*123C>T	ENSP00000494066.1:n.*123C>T
ENST00000644591.1:c.*128C>T	ENSP00000496664.1:n.*128C>T
ENST00000644895.1:c.*99+5739C>T	ENSP00000493872.1:n.*99+5739C>T
ENST00000645345.1:c.*374C>T	ENSP00000495859.1:n.*374C>T
ENST00000647524.1:c.*385C>T	ENSP00000495077.1:n.*385C>T
ENST00000373189.5:c.802C>T	ENSP00000362285.5:p.His268Tyr
ENST00000469204.1:n.299C>T
NM_001174098.1:c.*31C>T	NP_001167569.1:n.*31C>T
NM_018344.5:c.802C>T	NP_060814.4:p.His268Tyr
NR_033413.1:n.776C>T
NR_033414.1:n.549C>T
XM_006717910.2:c.568C>T	XP_006717973.1:p.His190Tyr
NM_001363518.1:c.568C>T	NP_001350447.1:p.His190Tyr
XM_017016377.2:c.364C>T	XP_016871866.1:p.His122Tyr
XM_017016378.2:c.184C>T	XP_016871867.1:p.His62Tyr
NM_018344.6:c.802C>T MANE Select	NP_060814.4:p.His268Tyr
NM_001174098.2:c.*31C>T	NP_001167569.1:n.*31C>T
NM_001363518.2:c.568C>T	NP_001350447.1:p.His190Tyr
NR_033413.2:n.770C>T
NR_033414.2:n.543C>T