Canonical Allele Identifier: CA377116979
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362357T>G , CM000672.2:g.71362357T>G GRCh38
NC_000010.10:g.73122114T>G , CM000672.1:g.73122114T>G GRCh37
NC_000010.9:g.72792120T>G NCBI36
NG_017066.1:g.48105T>G
NG_017066.2:g.48099T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2653T>G
ENST00000373189.6:c.1177T>G MANE Select ENSP00000362285.5:p.Phe393Val
ENST00000479577.2:c.943T>G ENSP00000493995.1:p.Phe315Val
ENST00000642198.1:c.*749T>G ENSP00000494827.1:n.*749T>G
ENST00000642772.1:c.*94+6114T>G ENSP00000495041.1:n.*94+6114T>G
ENST00000643042.1:c.798T>G ENSP00000496674.1:n.798T>G
ENST00000643619.1:c.*760T>G ENSP00000494378.1:n.*760T>G
ENST00000643752.1:c.*503T>G ENSP00000495000.1:n.*503T>G
ENST00000644088.1:c.*498T>G ENSP00000494066.1:n.*498T>G
ENST00000644591.1:c.*503T>G ENSP00000496664.1:n.*503T>G
ENST00000644895.1:c.*99+6114T>G ENSP00000493872.1:n.*99+6114T>G
ENST00000645345.1:c.*749T>G ENSP00000495859.1:n.*749T>G
ENST00000647524.1:c.*760T>G ENSP00000495077.1:n.*760T>G
ENST00000373189.5:c.1177T>G ENSP00000362285.5:p.Phe393Val
ENST00000469204.1:n.674T>G
NM_001174098.1:c.*406T>G NP_001167569.1:n.*406T>G
NM_018344.5:c.1177T>G NP_060814.4:p.Phe393Val
NR_033413.1:n.1151T>G
NR_033414.1:n.924T>G
XM_006717910.2:c.943T>G XP_006717973.1:p.Phe315Val
NM_001363518.1:c.943T>G NP_001350447.1:p.Phe315Val
XM_017016377.2:c.739T>G XP_016871866.1:p.Phe247Val
XM_017016378.2:c.559T>G XP_016871867.1:p.Phe187Val
NM_018344.6:c.1177T>G MANE Select NP_060814.4:p.Phe393Val
NM_001174098.2:c.*406T>G NP_001167569.1:n.*406T>G
NM_001363518.2:c.943T>G NP_001350447.1:p.Phe315Val
NR_033413.2:n.1145T>G
NR_033414.2:n.918T>G