Canonical Allele Identifier: CA470281558
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73122224C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362467C>G , CM000672.2:g.71362467C>G GRCh38
NC_000010.10:g.73122224C>G , CM000672.1:g.73122224C>G GRCh37
NC_000010.9:g.72792230C>G NCBI36
NG_017066.1:g.48215C>G
NG_017066.2:g.48209C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2763C>G
ENST00000373189.6:c.1287C>G MANE Select ENSP00000362285.5:p.Leu429=
ENST00000479577.2:c.1053C>G ENSP00000493995.1:p.Leu351=
ENST00000642198.1:c.*859C>G ENSP00000494827.1:n.*859C>G
ENST00000642772.1:c.*94+6224C>G ENSP00000495041.1:n.*94+6224C>G
ENST00000643042.1:c.908C>G ENSP00000496674.1:n.908C>G
ENST00000643619.1:c.*870C>G ENSP00000494378.1:n.*870C>G
ENST00000643752.1:c.*613C>G ENSP00000495000.1:n.*613C>G
ENST00000644088.1:c.*608C>G ENSP00000494066.1:n.*608C>G
ENST00000644591.1:c.*613C>G ENSP00000496664.1:n.*613C>G
ENST00000644895.1:c.*99+6224C>G ENSP00000493872.1:n.*99+6224C>G
ENST00000645345.1:c.*859C>G ENSP00000495859.1:n.*859C>G
ENST00000647524.1:c.*870C>G ENSP00000495077.1:n.*870C>G
ENST00000373189.5:c.1287C>G ENSP00000362285.5:p.Leu429=
ENST00000469204.1:n.784C>G
NM_001174098.1:c.*516C>G NP_001167569.1:n.*516C>G
NM_018344.5:c.1287C>G NP_060814.4:p.Leu429=
NR_033413.1:n.1261C>G
NR_033414.1:n.1034C>G
XM_006717910.2:c.1053C>G XP_006717973.1:p.Leu351=
NM_001363518.1:c.1053C>G NP_001350447.1:p.Leu351=
XM_017016377.2:c.849C>G XP_016871866.1:p.Leu283=
XM_017016378.2:c.669C>G XP_016871867.1:p.Leu223=
NM_018344.6:c.1287C>G MANE Select NP_060814.4:p.Leu429=
NM_001174098.2:c.*516C>G NP_001167569.1:n.*516C>G
NM_001363518.2:c.1053C>G NP_001350447.1:p.Leu351=
NR_033413.2:n.1255C>G
NR_033414.2:n.1028C>G