Canonical Allele Identifier: CA1918678529
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362480C= , CM000672.2:g.71362480C= GRCh38
NC_000010.10:g.73122237C= , CM000672.1:g.73122237C= GRCh37
NC_000010.9:g.72792243C= NCBI36
NG_017066.1:g.48228C=
NG_017066.2:g.48222C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2776C=
ENST00000373189.6:c.1300C= MANE Select ENSP00000362285.5:p.Leu434=
ENST00000479577.2:c.1066C= ENSP00000493995.1:p.Leu356=
ENST00000642198.1:c.*872C= ENSP00000494827.1:n.*872C=
ENST00000642772.1:c.*94+6237C= ENSP00000495041.1:n.*94+6237C=
ENST00000643042.1:c.921C= ENSP00000496674.1:n.921C=
ENST00000643619.1:c.*883C= ENSP00000494378.1:n.*883C=
ENST00000643752.1:c.*626C= ENSP00000495000.1:n.*626C=
ENST00000644088.1:c.*621C= ENSP00000494066.1:n.*621C=
ENST00000644591.1:c.*626C= ENSP00000496664.1:n.*626C=
ENST00000644895.1:c.*99+6237C= ENSP00000493872.1:n.*99+6237C=
ENST00000645345.1:c.*872C= ENSP00000495859.1:n.*872C=
ENST00000647524.1:c.*883C= ENSP00000495077.1:n.*883C=
ENST00000373189.5:c.1300C= ENSP00000362285.5:p.Leu434=
ENST00000469204.1:n.797C=
NM_001174098.1:c.*529C= NP_001167569.1:n.*529C=
NM_018344.5:c.1300C= NP_060814.4:p.Leu434=
NR_033413.1:n.1274C=
NR_033414.1:n.1047C=
XM_006717910.2:c.1066C= XP_006717973.1:p.Leu356=
NM_001363518.1:c.1066C= NP_001350447.1:p.Leu356=
XM_017016377.2:c.862C= XP_016871866.1:p.Leu288=
XM_017016378.2:c.682C= XP_016871867.1:p.Leu228=
NM_018344.6:c.1300C= MANE Select NP_060814.4:p.Leu434=
NM_001174098.2:c.*529C= NP_001167569.1:n.*529C=
NM_001363518.2:c.1066C= NP_001350447.1:p.Leu356=
NR_033413.2:n.1268C=
NR_033414.2:n.1041C=