Canonical Allele Identifier: CA377115336
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362165A>C , CM000672.2:g.71362165A>C GRCh38
NC_000010.10:g.73121922A>C , CM000672.1:g.73121922A>C GRCh37
NC_000010.9:g.72791928A>C NCBI36
NG_017066.1:g.47913A>C
NG_017066.2:g.47907A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2461A>C
ENST00000373189.6:c.985A>C MANE Select ENSP00000362285.5:p.Asn329His
ENST00000479577.2:c.751A>C ENSP00000493995.1:p.Asn251His
ENST00000642198.1:c.*557A>C ENSP00000494827.1:n.*557A>C
ENST00000642772.1:c.*94+5922A>C ENSP00000495041.1:n.*94+5922A>C
ENST00000643042.1:c.606A>C ENSP00000496674.1:n.606A>C
ENST00000643619.1:c.*568A>C ENSP00000494378.1:n.*568A>C
ENST00000643752.1:c.*311A>C ENSP00000495000.1:n.*311A>C
ENST00000644088.1:c.*306A>C ENSP00000494066.1:n.*306A>C
ENST00000644591.1:c.*311A>C ENSP00000496664.1:n.*311A>C
ENST00000644895.1:c.*99+5922A>C ENSP00000493872.1:n.*99+5922A>C
ENST00000645345.1:c.*557A>C ENSP00000495859.1:n.*557A>C
ENST00000647524.1:c.*568A>C ENSP00000495077.1:n.*568A>C
ENST00000373189.5:c.985A>C ENSP00000362285.5:p.Asn329His
ENST00000469204.1:n.482A>C
NM_001174098.1:c.*214A>C NP_001167569.1:n.*214A>C
NM_018344.5:c.985A>C NP_060814.4:p.Asn329His
NR_033413.1:n.959A>C
NR_033414.1:n.732A>C
XM_006717910.2:c.751A>C XP_006717973.1:p.Asn251His
NM_001363518.1:c.751A>C NP_001350447.1:p.Asn251His
XM_017016377.2:c.547A>C XP_016871866.1:p.Asn183His
XM_017016378.2:c.367A>C XP_016871867.1:p.Asn123His
NM_018344.6:c.985A>C MANE Select NP_060814.4:p.Asn329His
NM_001174098.2:c.*214A>C NP_001167569.1:n.*214A>C
NM_001363518.2:c.751A>C NP_001350447.1:p.Asn251His
NR_033413.2:n.953A>C
NR_033414.2:n.726A>C