Canonical Allele Identifier: CA209388082

Gene: SLC29A3

Linked Data

• dbSNP Id: rs777260346
• gnomAD v2: 10-73122112-T-G
• MyVariant Identifiers: chr10:g.73122112T>G (hg19) ; chr10:g.71362355T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362355T>G , CM000672.2:g.71362355T>G	GRCh38
NC_000010.10:g.73122112T>G , CM000672.1:g.73122112T>G	GRCh37
NC_000010.9:g.72792118T>G	NCBI36
NG_017066.1:g.48103T>G
NG_017066.2:g.48097T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2651T>G
ENST00000373189.6:c.1175T>G MANE Select	ENSP00000362285.5:p.Leu392Arg
ENST00000479577.2:c.941T>G	ENSP00000493995.1:p.Leu314Arg
ENST00000642198.1:c.*747T>G	ENSP00000494827.1:n.*747T>G
ENST00000642772.1:c.*94+6112T>G	ENSP00000495041.1:n.*94+6112T>G
ENST00000643042.1:c.796T>G	ENSP00000496674.1:n.796T>G
ENST00000643619.1:c.*758T>G	ENSP00000494378.1:n.*758T>G
ENST00000643752.1:c.*501T>G	ENSP00000495000.1:n.*501T>G
ENST00000644088.1:c.*496T>G	ENSP00000494066.1:n.*496T>G
ENST00000644591.1:c.*501T>G	ENSP00000496664.1:n.*501T>G
ENST00000644895.1:c.*99+6112T>G	ENSP00000493872.1:n.*99+6112T>G
ENST00000645345.1:c.*747T>G	ENSP00000495859.1:n.*747T>G
ENST00000647524.1:c.*758T>G	ENSP00000495077.1:n.*758T>G
ENST00000373189.5:c.1175T>G	ENSP00000362285.5:p.Leu392Arg
ENST00000469204.1:n.672T>G
NM_001174098.1:c.*404T>G	NP_001167569.1:n.*404T>G
NM_018344.5:c.1175T>G	NP_060814.4:p.Leu392Arg
NR_033413.1:n.1149T>G
NR_033414.1:n.922T>G
XM_006717910.2:c.941T>G	XP_006717973.1:p.Leu314Arg
NM_001363518.1:c.941T>G	NP_001350447.1:p.Leu314Arg
XM_017016377.2:c.737T>G	XP_016871866.1:p.Leu246Arg
XM_017016378.2:c.557T>G	XP_016871867.1:p.Leu186Arg
NM_018344.6:c.1175T>G MANE Select	NP_060814.4:p.Leu392Arg
NM_001174098.2:c.*404T>G	NP_001167569.1:n.*404T>G
NM_001363518.2:c.941T>G	NP_001350447.1:p.Leu314Arg
NR_033413.2:n.1143T>G
NR_033414.2:n.916T>G