Canonical Allele Identifier: CA377116928
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362328T>A , CM000672.2:g.71362328T>A GRCh38
NC_000010.10:g.73122085T>A , CM000672.1:g.73122085T>A GRCh37
NC_000010.9:g.72792091T>A NCBI36
NG_017066.1:g.48076T>A
NG_017066.2:g.48070T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2624T>A
ENST00000373189.6:c.1148T>A MANE Select ENSP00000362285.5:p.Val383Glu
ENST00000479577.2:c.914T>A ENSP00000493995.1:p.Val305Glu
ENST00000642198.1:c.*720T>A ENSP00000494827.1:n.*720T>A
ENST00000642772.1:c.*94+6085T>A ENSP00000495041.1:n.*94+6085T>A
ENST00000643042.1:c.769T>A ENSP00000496674.1:n.769T>A
ENST00000643619.1:c.*731T>A ENSP00000494378.1:n.*731T>A
ENST00000643752.1:c.*474T>A ENSP00000495000.1:n.*474T>A
ENST00000644088.1:c.*469T>A ENSP00000494066.1:n.*469T>A
ENST00000644591.1:c.*474T>A ENSP00000496664.1:n.*474T>A
ENST00000644895.1:c.*99+6085T>A ENSP00000493872.1:n.*99+6085T>A
ENST00000645345.1:c.*720T>A ENSP00000495859.1:n.*720T>A
ENST00000647524.1:c.*731T>A ENSP00000495077.1:n.*731T>A
ENST00000373189.5:c.1148T>A ENSP00000362285.5:p.Val383Glu
ENST00000469204.1:n.645T>A
NM_001174098.1:c.*377T>A NP_001167569.1:n.*377T>A
NM_018344.5:c.1148T>A NP_060814.4:p.Val383Glu
NR_033413.1:n.1122T>A
NR_033414.1:n.895T>A
XM_006717910.2:c.914T>A XP_006717973.1:p.Val305Glu
NM_001363518.1:c.914T>A NP_001350447.1:p.Val305Glu
XM_017016377.2:c.710T>A XP_016871866.1:p.Val237Glu
XM_017016378.2:c.530T>A XP_016871867.1:p.Val177Glu
NM_018344.6:c.1148T>A MANE Select NP_060814.4:p.Val383Glu
NM_001174098.2:c.*377T>A NP_001167569.1:n.*377T>A
NM_001363518.2:c.914T>A NP_001350447.1:p.Val305Glu
NR_033413.2:n.1116T>A
NR_033414.2:n.889T>A