Canonical Allele Identifier: CA377114490
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362066C>T , CM000672.2:g.71362066C>T GRCh38
NC_000010.10:g.73121823C>T , CM000672.1:g.73121823C>T GRCh37
NC_000010.9:g.72791829C>T NCBI36
NG_017066.1:g.47814C>T
NG_017066.2:g.47808C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2362C>T
ENST00000373189.6:c.886C>T MANE Select ENSP00000362285.5:p.Pro296Ser
ENST00000479577.2:c.652C>T ENSP00000493995.1:p.Pro218Ser
ENST00000642198.1:c.*458C>T ENSP00000494827.1:n.*458C>T
ENST00000642772.1:c.*94+5823C>T ENSP00000495041.1:n.*94+5823C>T
ENST00000643042.1:c.507C>T ENSP00000496674.1:n.507C>T
ENST00000643619.1:c.*469C>T ENSP00000494378.1:n.*469C>T
ENST00000643752.1:c.*212C>T ENSP00000495000.1:n.*212C>T
ENST00000644088.1:c.*207C>T ENSP00000494066.1:n.*207C>T
ENST00000644591.1:c.*212C>T ENSP00000496664.1:n.*212C>T
ENST00000644895.1:c.*99+5823C>T ENSP00000493872.1:n.*99+5823C>T
ENST00000645345.1:c.*458C>T ENSP00000495859.1:n.*458C>T
ENST00000647524.1:c.*469C>T ENSP00000495077.1:n.*469C>T
ENST00000373189.5:c.886C>T ENSP00000362285.5:p.Pro296Ser
ENST00000469204.1:n.383C>T
NM_001174098.1:c.*115C>T NP_001167569.1:n.*115C>T
NM_018344.5:c.886C>T NP_060814.4:p.Pro296Ser
NR_033413.1:n.860C>T
NR_033414.1:n.633C>T
XM_006717910.2:c.652C>T XP_006717973.1:p.Pro218Ser
NM_001363518.1:c.652C>T NP_001350447.1:p.Pro218Ser
XM_017016377.2:c.448C>T XP_016871866.1:p.Pro150Ser
XM_017016378.2:c.268C>T XP_016871867.1:p.Pro90Ser
NM_018344.6:c.886C>T MANE Select NP_060814.4:p.Pro296Ser
NM_001174098.2:c.*115C>T NP_001167569.1:n.*115C>T
NM_001363518.2:c.652C>T NP_001350447.1:p.Pro218Ser
NR_033413.2:n.854C>T
NR_033414.2:n.627C>T