Canonical Allele Identifier: CA377116980

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122115T>G (hg19) ; chr10:g.71362358T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362358T>G , CM000672.2:g.71362358T>G	GRCh38
NC_000010.10:g.73122115T>G , CM000672.1:g.73122115T>G	GRCh37
NC_000010.9:g.72792121T>G	NCBI36
NG_017066.1:g.48106T>G
NG_017066.2:g.48100T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2654T>G
ENST00000373189.6:c.1178T>G MANE Select	ENSP00000362285.5:p.Phe393Cys
ENST00000479577.2:c.944T>G	ENSP00000493995.1:p.Phe315Cys
ENST00000642198.1:c.*750T>G	ENSP00000494827.1:n.*750T>G
ENST00000642772.1:c.*94+6115T>G	ENSP00000495041.1:n.*94+6115T>G
ENST00000643042.1:c.799T>G	ENSP00000496674.1:n.799T>G
ENST00000643619.1:c.*761T>G	ENSP00000494378.1:n.*761T>G
ENST00000643752.1:c.*504T>G	ENSP00000495000.1:n.*504T>G
ENST00000644088.1:c.*499T>G	ENSP00000494066.1:n.*499T>G
ENST00000644591.1:c.*504T>G	ENSP00000496664.1:n.*504T>G
ENST00000644895.1:c.*99+6115T>G	ENSP00000493872.1:n.*99+6115T>G
ENST00000645345.1:c.*750T>G	ENSP00000495859.1:n.*750T>G
ENST00000647524.1:c.*761T>G	ENSP00000495077.1:n.*761T>G
ENST00000373189.5:c.1178T>G	ENSP00000362285.5:p.Phe393Cys
ENST00000469204.1:n.675T>G
NM_001174098.1:c.*407T>G	NP_001167569.1:n.*407T>G
NM_018344.5:c.1178T>G	NP_060814.4:p.Phe393Cys
NR_033413.1:n.1152T>G
NR_033414.1:n.925T>G
XM_006717910.2:c.944T>G	XP_006717973.1:p.Phe315Cys
NM_001363518.1:c.944T>G	NP_001350447.1:p.Phe315Cys
XM_017016377.2:c.740T>G	XP_016871866.1:p.Phe247Cys
XM_017016378.2:c.560T>G	XP_016871867.1:p.Phe187Cys
NM_018344.6:c.1178T>G MANE Select	NP_060814.4:p.Phe393Cys
NM_001174098.2:c.*407T>G	NP_001167569.1:n.*407T>G
NM_001363518.2:c.944T>G	NP_001350447.1:p.Phe315Cys
NR_033413.2:n.1146T>G
NR_033414.2:n.919T>G