Canonical Allele Identifier: CA377115430
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362177C>G , CM000672.2:g.71362177C>G GRCh38
NC_000010.10:g.73121934C>G , CM000672.1:g.73121934C>G GRCh37
NC_000010.9:g.72791940C>G NCBI36
NG_017066.1:g.47925C>G
NG_017066.2:g.47919C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2473C>G
ENST00000373189.6:c.997C>G MANE Select ENSP00000362285.5:p.Leu333Val
ENST00000479577.2:c.763C>G ENSP00000493995.1:p.Leu255Val
ENST00000642198.1:c.*569C>G ENSP00000494827.1:n.*569C>G
ENST00000642772.1:c.*94+5934C>G ENSP00000495041.1:n.*94+5934C>G
ENST00000643042.1:c.618C>G ENSP00000496674.1:n.618C>G
ENST00000643619.1:c.*580C>G ENSP00000494378.1:n.*580C>G
ENST00000643752.1:c.*323C>G ENSP00000495000.1:n.*323C>G
ENST00000644088.1:c.*318C>G ENSP00000494066.1:n.*318C>G
ENST00000644591.1:c.*323C>G ENSP00000496664.1:n.*323C>G
ENST00000644895.1:c.*99+5934C>G ENSP00000493872.1:n.*99+5934C>G
ENST00000645345.1:c.*569C>G ENSP00000495859.1:n.*569C>G
ENST00000647524.1:c.*580C>G ENSP00000495077.1:n.*580C>G
ENST00000373189.5:c.997C>G ENSP00000362285.5:p.Leu333Val
ENST00000469204.1:n.494C>G
NM_001174098.1:c.*226C>G NP_001167569.1:n.*226C>G
NM_018344.5:c.997C>G NP_060814.4:p.Leu333Val
NR_033413.1:n.971C>G
NR_033414.1:n.744C>G
XM_006717910.2:c.763C>G XP_006717973.1:p.Leu255Val
NM_001363518.1:c.763C>G NP_001350447.1:p.Leu255Val
XM_017016377.2:c.559C>G XP_016871866.1:p.Leu187Val
XM_017016378.2:c.379C>G XP_016871867.1:p.Leu127Val
NM_018344.6:c.997C>G MANE Select NP_060814.4:p.Leu333Val
NM_001174098.2:c.*226C>G NP_001167569.1:n.*226C>G
NM_001363518.2:c.763C>G NP_001350447.1:p.Leu255Val
NR_033413.2:n.965C>G
NR_033414.2:n.738C>G