Canonical Allele Identifier: CA1918678286
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71361973C= , CM000672.2:g.71361973C= GRCh38
NC_000010.10:g.73121730C= , CM000672.1:g.73121730C= GRCh37
NC_000010.9:g.72791736C= NCBI36
NG_017066.1:g.47721C=
NG_017066.2:g.47715C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2269C=
ENST00000373189.6:c.793C= MANE Select ENSP00000362285.5:p.Leu265=
ENST00000479577.2:c.559C= ENSP00000493995.1:p.Leu187=
ENST00000642198.1:c.*365C= ENSP00000494827.1:n.*365C=
ENST00000642772.1:c.*94+5730C= ENSP00000495041.1:n.*94+5730C=
ENST00000643042.1:c.414C= ENSP00000496674.1:n.414C=
ENST00000643619.1:c.*376C= ENSP00000494378.1:n.*376C=
ENST00000643752.1:c.*119C= ENSP00000495000.1:n.*119C=
ENST00000644088.1:c.*114C= ENSP00000494066.1:n.*114C=
ENST00000644591.1:c.*119C= ENSP00000496664.1:n.*119C=
ENST00000644895.1:c.*99+5730C= ENSP00000493872.1:n.*99+5730C=
ENST00000645345.1:c.*365C= ENSP00000495859.1:n.*365C=
ENST00000647524.1:c.*376C= ENSP00000495077.1:n.*376C=
ENST00000373189.5:c.793C= ENSP00000362285.5:p.Leu265=
ENST00000469204.1:n.290C=
NM_001174098.1:c.*22C= NP_001167569.1:n.*22C=
NM_018344.5:c.793C= NP_060814.4:p.Leu265=
NR_033413.1:n.767C=
NR_033414.1:n.540C=
XM_006717910.2:c.559C= XP_006717973.1:p.Leu187=
NM_001363518.1:c.559C= NP_001350447.1:p.Leu187=
XM_017016377.2:c.355C= XP_016871866.1:p.Leu119=
XM_017016378.2:c.175C= XP_016871867.1:p.Leu59=
NM_018344.6:c.793C= MANE Select NP_060814.4:p.Leu265=
NM_001174098.2:c.*22C= NP_001167569.1:n.*22C=
NM_001363518.2:c.559C= NP_001350447.1:p.Leu187=
NR_033413.2:n.761C=
NR_033414.2:n.534C=