Canonical Allele Identifier: CA470281197
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73121936C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362179C>G , CM000672.2:g.71362179C>G GRCh38
NC_000010.10:g.73121936C>G , CM000672.1:g.73121936C>G GRCh37
NC_000010.9:g.72791942C>G NCBI36
NG_017066.1:g.47927C>G
NG_017066.2:g.47921C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2475C>G
ENST00000373189.6:c.999C>G MANE Select ENSP00000362285.5:p.Leu333=
ENST00000479577.2:c.765C>G ENSP00000493995.1:p.Leu255=
ENST00000642198.1:c.*571C>G ENSP00000494827.1:n.*571C>G
ENST00000642772.1:c.*94+5936C>G ENSP00000495041.1:n.*94+5936C>G
ENST00000643042.1:c.620C>G ENSP00000496674.1:n.620C>G
ENST00000643619.1:c.*582C>G ENSP00000494378.1:n.*582C>G
ENST00000643752.1:c.*325C>G ENSP00000495000.1:n.*325C>G
ENST00000644088.1:c.*320C>G ENSP00000494066.1:n.*320C>G
ENST00000644591.1:c.*325C>G ENSP00000496664.1:n.*325C>G
ENST00000644895.1:c.*99+5936C>G ENSP00000493872.1:n.*99+5936C>G
ENST00000645345.1:c.*571C>G ENSP00000495859.1:n.*571C>G
ENST00000647524.1:c.*582C>G ENSP00000495077.1:n.*582C>G
ENST00000373189.5:c.999C>G ENSP00000362285.5:p.Leu333=
ENST00000469204.1:n.496C>G
NM_001174098.1:c.*228C>G NP_001167569.1:n.*228C>G
NM_018344.5:c.999C>G NP_060814.4:p.Leu333=
NR_033413.1:n.973C>G
NR_033414.1:n.746C>G
XM_006717910.2:c.765C>G XP_006717973.1:p.Leu255=
NM_001363518.1:c.765C>G NP_001350447.1:p.Leu255=
XM_017016377.2:c.561C>G XP_016871866.1:p.Leu187=
XM_017016378.2:c.381C>G XP_016871867.1:p.Leu127=
NM_018344.6:c.999C>G MANE Select NP_060814.4:p.Leu333=
NM_001174098.2:c.*228C>G NP_001167569.1:n.*228C>G
NM_001363518.2:c.765C>G NP_001350447.1:p.Leu255=
NR_033413.2:n.967C>G
NR_033414.2:n.740C>G