Canonical Allele Identifier: CA209401289
Gene: SLC29A3 HGNC NCBI

Linked Data

dbSNP Id: rs202099590

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71344284G>A , CM000672.2:g.71344284G>A GRCh38
NC_000010.10:g.73104041G>A , CM000672.1:g.73104041G>A GRCh37
NC_000010.9:g.72774047G>A NCBI36
NG_017066.1:g.30032G>A
NG_017066.2:g.30026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.822G>A
ENST00000373189.6:c.376G>A MANE Select ENSP00000362285.5:p.Val126Ile
ENST00000479577.2:c.142G>A ENSP00000493995.1:p.Val48Ile
ENST00000642198.1:c.67-7278G>A ENSP00000494827.1:n.67-7278G>A
ENST00000642772.1:c.301-11797G>A ENSP00000495041.1:n.301-11797G>A
ENST00000643042.1:c.232-11797G>A ENSP00000496674.1:n.232-11797G>A
ENST00000643619.1:c.142G>A ENSP00000494378.1:p.Val48Ile
ENST00000643752.1:c.376G>A ENSP00000495000.1:p.Val126Ile
ENST00000644088.1:c.301-11797G>A ENSP00000494066.1:n.301-11797G>A
ENST00000644591.1:c.301-7278G>A ENSP00000496664.1:n.301-7278G>A
ENST00000644895.1:c.301-7278G>A ENSP00000493872.1:n.301-7278G>A
ENST00000645345.1:c.301-7278G>A ENSP00000495859.1:n.301-7278G>A
ENST00000647524.1:c.376G>A ENSP00000495077.1:p.Val126Ile
ENST00000373189.5:c.376G>A ENSP00000362285.5:p.Val126Ile
NM_001174098.1:c.376G>A NP_001167569.1:p.Val126Ile
NM_018344.5:c.376G>A NP_060814.4:p.Val126Ile
NR_033413.1:n.358-7278G>A
NR_033414.1:n.358-11797G>A
XM_006717910.2:c.142G>A XP_006717973.1:p.Val48Ile
XR_946051.1:n.626-2903C>T
NM_001363518.1:c.142G>A NP_001350447.1:p.Val48Ile
XM_017016377.2:c.-55-7278G>A XP_016871866.1:n.-55-7278G>A
XM_017016378.2:c.-8-11797G>A XP_016871867.1:n.-8-11797G>A
XR_001747496.1:n.1552-2903C>T
XR_946051.2:n.1552-2903C>T
NM_018344.6:c.376G>A MANE Select NP_060814.4:p.Val126Ile
NM_001174098.2:c.376G>A NP_001167569.1:p.Val126Ile
NM_001363518.2:c.142G>A NP_001350447.1:p.Val48Ile
NR_033413.2:n.352-7278G>A
NR_033414.2:n.352-11797G>A