Canonical Allele Identifier: CA377114529
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362073T>G , CM000672.2:g.71362073T>G GRCh38
NC_000010.10:g.73121830T>G , CM000672.1:g.73121830T>G GRCh37
NC_000010.9:g.72791836T>G NCBI36
NG_017066.1:g.47821T>G
NG_017066.2:g.47815T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2369T>G
ENST00000373189.6:c.893T>G MANE Select ENSP00000362285.5:p.Leu298Arg
ENST00000479577.2:c.659T>G ENSP00000493995.1:p.Leu220Arg
ENST00000642198.1:c.*465T>G ENSP00000494827.1:n.*465T>G
ENST00000642772.1:c.*94+5830T>G ENSP00000495041.1:n.*94+5830T>G
ENST00000643042.1:c.514T>G ENSP00000496674.1:n.514T>G
ENST00000643619.1:c.*476T>G ENSP00000494378.1:n.*476T>G
ENST00000643752.1:c.*219T>G ENSP00000495000.1:n.*219T>G
ENST00000644088.1:c.*214T>G ENSP00000494066.1:n.*214T>G
ENST00000644591.1:c.*219T>G ENSP00000496664.1:n.*219T>G
ENST00000644895.1:c.*99+5830T>G ENSP00000493872.1:n.*99+5830T>G
ENST00000645345.1:c.*465T>G ENSP00000495859.1:n.*465T>G
ENST00000647524.1:c.*476T>G ENSP00000495077.1:n.*476T>G
ENST00000373189.5:c.893T>G ENSP00000362285.5:p.Leu298Arg
ENST00000469204.1:n.390T>G
NM_001174098.1:c.*122T>G NP_001167569.1:n.*122T>G
NM_018344.5:c.893T>G NP_060814.4:p.Leu298Arg
NR_033413.1:n.867T>G
NR_033414.1:n.640T>G
XM_006717910.2:c.659T>G XP_006717973.1:p.Leu220Arg
NM_001363518.1:c.659T>G NP_001350447.1:p.Leu220Arg
XM_017016377.2:c.455T>G XP_016871866.1:p.Leu152Arg
XM_017016378.2:c.275T>G XP_016871867.1:p.Leu92Arg
NM_018344.6:c.893T>G MANE Select NP_060814.4:p.Leu298Arg
NM_001174098.2:c.*122T>G NP_001167569.1:n.*122T>G
NM_001363518.2:c.659T>G NP_001350447.1:p.Leu220Arg
NR_033413.2:n.861T>G
NR_033414.2:n.634T>G