Canonical Allele Identifier: CA377117115

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1407589116
• gnomAD v2: 10-73122181-C-G
• MyVariant Identifiers: chr10:g.73122181C>G (hg19) ; chr10:g.71362424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362424C>G , CM000672.2:g.71362424C>G	GRCh38
NC_000010.10:g.73122181C>G , CM000672.1:g.73122181C>G	GRCh37
NC_000010.9:g.72792187C>G	NCBI36
NG_017066.1:g.48172C>G
NG_017066.2:g.48166C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2720C>G
ENST00000373189.6:c.1244C>G MANE Select	ENSP00000362285.5:p.Pro415Arg
ENST00000479577.2:c.1010C>G	ENSP00000493995.1:p.Pro337Arg
ENST00000642198.1:c.*816C>G	ENSP00000494827.1:n.*816C>G
ENST00000642772.1:c.*94+6181C>G	ENSP00000495041.1:n.*94+6181C>G
ENST00000643042.1:c.865C>G	ENSP00000496674.1:n.865C>G
ENST00000643619.1:c.*827C>G	ENSP00000494378.1:n.*827C>G
ENST00000643752.1:c.*570C>G	ENSP00000495000.1:n.*570C>G
ENST00000644088.1:c.*565C>G	ENSP00000494066.1:n.*565C>G
ENST00000644591.1:c.*570C>G	ENSP00000496664.1:n.*570C>G
ENST00000644895.1:c.*99+6181C>G	ENSP00000493872.1:n.*99+6181C>G
ENST00000645345.1:c.*816C>G	ENSP00000495859.1:n.*816C>G
ENST00000647524.1:c.*827C>G	ENSP00000495077.1:n.*827C>G
ENST00000373189.5:c.1244C>G	ENSP00000362285.5:p.Pro415Arg
ENST00000469204.1:n.741C>G
NM_001174098.1:c.*473C>G	NP_001167569.1:n.*473C>G
NM_018344.5:c.1244C>G	NP_060814.4:p.Pro415Arg
NR_033413.1:n.1218C>G
NR_033414.1:n.991C>G
XM_006717910.2:c.1010C>G	XP_006717973.1:p.Pro337Arg
NM_001363518.1:c.1010C>G	NP_001350447.1:p.Pro337Arg
XM_017016377.2:c.806C>G	XP_016871866.1:p.Pro269Arg
XM_017016378.2:c.626C>G	XP_016871867.1:p.Pro209Arg
NM_018344.6:c.1244C>G MANE Select	NP_060814.4:p.Pro415Arg
NM_001174098.2:c.*473C>G	NP_001167569.1:n.*473C>G
NM_001363518.2:c.1010C>G	NP_001350447.1:p.Pro337Arg
NR_033413.2:n.1212C>G
NR_033414.2:n.985C>G