Canonical Allele Identifier: CA377115140
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362139G>T , CM000672.2:g.71362139G>T GRCh38
NC_000010.10:g.73121896G>T , CM000672.1:g.73121896G>T GRCh37
NC_000010.9:g.72791902G>T NCBI36
NG_017066.1:g.47887G>T
NG_017066.2:g.47881G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2435G>T
ENST00000373189.6:c.959G>T MANE Select ENSP00000362285.5:p.Ser320Ile
ENST00000479577.2:c.725G>T ENSP00000493995.1:p.Ser242Ile
ENST00000642198.1:c.*531G>T ENSP00000494827.1:n.*531G>T
ENST00000642772.1:c.*94+5896G>T ENSP00000495041.1:n.*94+5896G>T
ENST00000643042.1:c.580G>T ENSP00000496674.1:n.580G>T
ENST00000643619.1:c.*542G>T ENSP00000494378.1:n.*542G>T
ENST00000643752.1:c.*285G>T ENSP00000495000.1:n.*285G>T
ENST00000644088.1:c.*280G>T ENSP00000494066.1:n.*280G>T
ENST00000644591.1:c.*285G>T ENSP00000496664.1:n.*285G>T
ENST00000644895.1:c.*99+5896G>T ENSP00000493872.1:n.*99+5896G>T
ENST00000645345.1:c.*531G>T ENSP00000495859.1:n.*531G>T
ENST00000647524.1:c.*542G>T ENSP00000495077.1:n.*542G>T
ENST00000373189.5:c.959G>T ENSP00000362285.5:p.Ser320Ile
ENST00000469204.1:n.456G>T
NM_001174098.1:c.*188G>T NP_001167569.1:n.*188G>T
NM_018344.5:c.959G>T NP_060814.4:p.Ser320Ile
NR_033413.1:n.933G>T
NR_033414.1:n.706G>T
XM_006717910.2:c.725G>T XP_006717973.1:p.Ser242Ile
NM_001363518.1:c.725G>T NP_001350447.1:p.Ser242Ile
XM_017016377.2:c.521G>T XP_016871866.1:p.Ser174Ile
XM_017016378.2:c.341G>T XP_016871867.1:p.Ser114Ile
NM_018344.6:c.959G>T MANE Select NP_060814.4:p.Ser320Ile
NM_001174098.2:c.*188G>T NP_001167569.1:n.*188G>T
NM_001363518.2:c.725G>T NP_001350447.1:p.Ser242Ile
NR_033413.2:n.927G>T
NR_033414.2:n.700G>T