Canonical Allele Identifier: CA377117109

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1847088738
• gnomAD v4: 10-71362421-A-G
• MyVariant Identifiers: chr10:g.73122178A>G (hg19) ; chr10:g.71362421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362421A>G , CM000672.2:g.71362421A>G	GRCh38
NC_000010.10:g.73122178A>G , CM000672.1:g.73122178A>G	GRCh37
NC_000010.9:g.72792184A>G	NCBI36
NG_017066.1:g.48169A>G
NG_017066.2:g.48163A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2717A>G
ENST00000373189.6:c.1241A>G MANE Select	ENSP00000362285.5:p.Tyr414Cys
ENST00000479577.2:c.1007A>G	ENSP00000493995.1:p.Tyr336Cys
ENST00000642198.1:c.*813A>G	ENSP00000494827.1:n.*813A>G
ENST00000642772.1:c.*94+6178A>G	ENSP00000495041.1:n.*94+6178A>G
ENST00000643042.1:c.862A>G	ENSP00000496674.1:n.862A>G
ENST00000643619.1:c.*824A>G	ENSP00000494378.1:n.*824A>G
ENST00000643752.1:c.*567A>G	ENSP00000495000.1:n.*567A>G
ENST00000644088.1:c.*562A>G	ENSP00000494066.1:n.*562A>G
ENST00000644591.1:c.*567A>G	ENSP00000496664.1:n.*567A>G
ENST00000644895.1:c.*99+6178A>G	ENSP00000493872.1:n.*99+6178A>G
ENST00000645345.1:c.*813A>G	ENSP00000495859.1:n.*813A>G
ENST00000647524.1:c.*824A>G	ENSP00000495077.1:n.*824A>G
ENST00000373189.5:c.1241A>G	ENSP00000362285.5:p.Tyr414Cys
ENST00000469204.1:n.738A>G
NM_001174098.1:c.*470A>G	NP_001167569.1:n.*470A>G
NM_018344.5:c.1241A>G	NP_060814.4:p.Tyr414Cys
NR_033413.1:n.1215A>G
NR_033414.1:n.988A>G
XM_006717910.2:c.1007A>G	XP_006717973.1:p.Tyr336Cys
NM_001363518.1:c.1007A>G	NP_001350447.1:p.Tyr336Cys
XM_017016377.2:c.803A>G	XP_016871866.1:p.Tyr268Cys
XM_017016378.2:c.623A>G	XP_016871867.1:p.Tyr208Cys
NM_018344.6:c.1241A>G MANE Select	NP_060814.4:p.Tyr414Cys
NM_001174098.2:c.*470A>G	NP_001167569.1:n.*470A>G
NM_001363518.2:c.1007A>G	NP_001350447.1:p.Tyr336Cys
NR_033413.2:n.1209A>G
NR_033414.2:n.982A>G