Canonical Allele Identifier: CA377114319
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362047A>C , CM000672.2:g.71362047A>C GRCh38
NC_000010.10:g.73121804A>C , CM000672.1:g.73121804A>C GRCh37
NC_000010.9:g.72791810A>C NCBI36
NG_017066.1:g.47795A>C
NG_017066.2:g.47789A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2343A>C
ENST00000373189.6:c.867A>C MANE Select ENSP00000362285.5:p.Arg289Ser
ENST00000479577.2:c.633A>C ENSP00000493995.1:p.Arg211Ser
ENST00000642198.1:c.*439A>C ENSP00000494827.1:n.*439A>C
ENST00000642772.1:c.*94+5804A>C ENSP00000495041.1:n.*94+5804A>C
ENST00000643042.1:c.488A>C ENSP00000496674.1:n.488A>C
ENST00000643619.1:c.*450A>C ENSP00000494378.1:n.*450A>C
ENST00000643752.1:c.*193A>C ENSP00000495000.1:n.*193A>C
ENST00000644088.1:c.*188A>C ENSP00000494066.1:n.*188A>C
ENST00000644591.1:c.*193A>C ENSP00000496664.1:n.*193A>C
ENST00000644895.1:c.*99+5804A>C ENSP00000493872.1:n.*99+5804A>C
ENST00000645345.1:c.*439A>C ENSP00000495859.1:n.*439A>C
ENST00000647524.1:c.*450A>C ENSP00000495077.1:n.*450A>C
ENST00000373189.5:c.867A>C ENSP00000362285.5:p.Arg289Ser
ENST00000469204.1:n.364A>C
NM_001174098.1:c.*96A>C NP_001167569.1:n.*96A>C
NM_018344.5:c.867A>C NP_060814.4:p.Arg289Ser
NR_033413.1:n.841A>C
NR_033414.1:n.614A>C
XM_006717910.2:c.633A>C XP_006717973.1:p.Arg211Ser
NM_001363518.1:c.633A>C NP_001350447.1:p.Arg211Ser
XM_017016377.2:c.429A>C XP_016871866.1:p.Arg143Ser
XM_017016378.2:c.249A>C XP_016871867.1:p.Arg83Ser
NM_018344.6:c.867A>C MANE Select NP_060814.4:p.Arg289Ser
NM_001174098.2:c.*96A>C NP_001167569.1:n.*96A>C
NM_001363518.2:c.633A>C NP_001350447.1:p.Arg211Ser
NR_033413.2:n.835A>C
NR_033414.2:n.608A>C