Canonical Allele Identifier: CA114349
Gene: SLC29A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 563
dbSNP Id: rs121912583

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362459G>A , CM000672.2:g.71362459G>A GRCh38
NC_000010.10:g.73122216G>A , CM000672.1:g.73122216G>A GRCh37
NC_000010.9:g.72792222G>A NCBI36
NG_017066.1:g.48207G>A
NG_017066.2:g.48201G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2755G>A
ENST00000373189.6:c.1279G>A MANE Select ENSP00000362285.5:p.Gly427Ser
ENST00000479577.2:c.1045G>A ENSP00000493995.1:p.Gly349Ser
ENST00000642198.1:c.*851G>A ENSP00000494827.1:n.*851G>A
ENST00000642772.1:c.*94+6216G>A ENSP00000495041.1:n.*94+6216G>A
ENST00000643042.1:c.900G>A ENSP00000496674.1:n.900G>A
ENST00000643619.1:c.*862G>A ENSP00000494378.1:n.*862G>A
ENST00000643752.1:c.*605G>A ENSP00000495000.1:n.*605G>A
ENST00000644088.1:c.*600G>A ENSP00000494066.1:n.*600G>A
ENST00000644591.1:c.*605G>A ENSP00000496664.1:n.*605G>A
ENST00000644895.1:c.*99+6216G>A ENSP00000493872.1:n.*99+6216G>A
ENST00000645345.1:c.*851G>A ENSP00000495859.1:n.*851G>A
ENST00000647524.1:c.*862G>A ENSP00000495077.1:n.*862G>A
ENST00000373189.5:c.1279G>A ENSP00000362285.5:p.Gly427Ser
ENST00000469204.1:n.776G>A
NM_001174098.1:c.*508G>A NP_001167569.1:n.*508G>A
NM_018344.5:c.1279G>A NP_060814.4:p.Gly427Ser
NR_033413.1:n.1253G>A
NR_033414.1:n.1026G>A
XM_006717910.2:c.1045G>A XP_006717973.1:p.Gly349Ser
NM_001363518.1:c.1045G>A NP_001350447.1:p.Gly349Ser
XM_017016377.2:c.841G>A XP_016871866.1:p.Gly281Ser
XM_017016378.2:c.661G>A XP_016871867.1:p.Gly221Ser
NM_018344.6:c.1279G>A MANE Select NP_060814.4:p.Gly427Ser
NM_001174098.2:c.*508G>A NP_001167569.1:n.*508G>A
NM_001363518.2:c.1045G>A NP_001350447.1:p.Gly349Ser
NR_033413.2:n.1247G>A
NR_033414.2:n.1020G>A