Canonical Allele Identifier: CA377117280
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362499T>G , CM000672.2:g.71362499T>G GRCh38
NC_000010.10:g.73122256T>G , CM000672.1:g.73122256T>G GRCh37
NC_000010.9:g.72792262T>G NCBI36
NG_017066.1:g.48247T>G
NG_017066.2:g.48241T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697843.1:n.2795T>G
ENST00000373189.6:c.1319T>G MANE Select ENSP00000362285.5:p.Ile440Ser
ENST00000479577.2:c.1085T>G ENSP00000493995.1:p.Ile362Ser
ENST00000642198.1:c.*891T>G ENSP00000494827.1:n.*891T>G
ENST00000642772.1:c.*94+6256T>G ENSP00000495041.1:n.*94+6256T>G
ENST00000643042.1:c.940T>G ENSP00000496674.1:n.940T>G
ENST00000643619.1:c.*902T>G ENSP00000494378.1:n.*902T>G
ENST00000643752.1:c.*645T>G ENSP00000495000.1:n.*645T>G
ENST00000644088.1:c.*640T>G ENSP00000494066.1:n.*640T>G
ENST00000644591.1:c.*645T>G ENSP00000496664.1:n.*645T>G
ENST00000644895.1:c.*99+6256T>G ENSP00000493872.1:n.*99+6256T>G
ENST00000645345.1:c.*891T>G ENSP00000495859.1:n.*891T>G
ENST00000647524.1:c.*902T>G ENSP00000495077.1:n.*902T>G
ENST00000373189.5:c.1319T>G ENSP00000362285.5:p.Ile440Ser
ENST00000469204.1:n.816T>G
NM_001174098.1:c.*548T>G NP_001167569.1:n.*548T>G
NM_018344.5:c.1319T>G NP_060814.4:p.Ile440Ser
NR_033413.1:n.1293T>G
NR_033414.1:n.1066T>G
XM_006717910.2:c.1085T>G XP_006717973.1:p.Ile362Ser
NM_001363518.1:c.1085T>G NP_001350447.1:p.Ile362Ser
XM_017016377.2:c.881T>G XP_016871866.1:p.Ile294Ser
XM_017016378.2:c.701T>G XP_016871867.1:p.Ile234Ser
NM_018344.6:c.1319T>G MANE Select NP_060814.4:p.Ile440Ser
NM_001174098.2:c.*548T>G NP_001167569.1:n.*548T>G
NM_001363518.2:c.1085T>G NP_001350447.1:p.Ile362Ser
NR_033413.2:n.1287T>G
NR_033414.2:n.1060T>G