Canonical Allele Identifier: CA470281018
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73121843G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362086G>T , CM000672.2:g.71362086G>T GRCh38
NC_000010.10:g.73121843G>T , CM000672.1:g.73121843G>T GRCh37
NC_000010.9:g.72791849G>T NCBI36
NG_017066.1:g.47834G>T
NG_017066.2:g.47828G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2382G>T
ENST00000373189.6:c.906G>T MANE Select ENSP00000362285.5:p.Leu302=
ENST00000479577.2:c.672G>T ENSP00000493995.1:p.Leu224=
ENST00000642198.1:c.*478G>T ENSP00000494827.1:n.*478G>T
ENST00000642772.1:c.*94+5843G>T ENSP00000495041.1:n.*94+5843G>T
ENST00000643042.1:c.527G>T ENSP00000496674.1:n.527G>T
ENST00000643619.1:c.*489G>T ENSP00000494378.1:n.*489G>T
ENST00000643752.1:c.*232G>T ENSP00000495000.1:n.*232G>T
ENST00000644088.1:c.*227G>T ENSP00000494066.1:n.*227G>T
ENST00000644591.1:c.*232G>T ENSP00000496664.1:n.*232G>T
ENST00000644895.1:c.*99+5843G>T ENSP00000493872.1:n.*99+5843G>T
ENST00000645345.1:c.*478G>T ENSP00000495859.1:n.*478G>T
ENST00000647524.1:c.*489G>T ENSP00000495077.1:n.*489G>T
ENST00000373189.5:c.906G>T ENSP00000362285.5:p.Leu302=
ENST00000469204.1:n.403G>T
NM_001174098.1:c.*135G>T NP_001167569.1:n.*135G>T
NM_018344.5:c.906G>T NP_060814.4:p.Leu302=
NR_033413.1:n.880G>T
NR_033414.1:n.653G>T
XM_006717910.2:c.672G>T XP_006717973.1:p.Leu224=
NM_001363518.1:c.672G>T NP_001350447.1:p.Leu224=
XM_017016377.2:c.468G>T XP_016871866.1:p.Leu156=
XM_017016378.2:c.288G>T XP_016871867.1:p.Leu96=
NM_018344.6:c.906G>T MANE Select NP_060814.4:p.Leu302=
NM_001174098.2:c.*135G>T NP_001167569.1:n.*135G>T
NM_001363518.2:c.672G>T NP_001350447.1:p.Leu224=
NR_033413.2:n.874G>T
NR_033414.2:n.647G>T