Canonical Allele Identifier: CA377117177
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362458C>G , CM000672.2:g.71362458C>G GRCh38
NC_000010.10:g.73122215C>G , CM000672.1:g.73122215C>G GRCh37
NC_000010.9:g.72792221C>G NCBI36
NG_017066.1:g.48206C>G
NG_017066.2:g.48200C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2754C>G
ENST00000373189.6:c.1278C>G MANE Select ENSP00000362285.5:p.Asn426Lys
ENST00000479577.2:c.1044C>G ENSP00000493995.1:p.Asn348Lys
ENST00000642198.1:c.*850C>G ENSP00000494827.1:n.*850C>G
ENST00000642772.1:c.*94+6215C>G ENSP00000495041.1:n.*94+6215C>G
ENST00000643042.1:c.899C>G ENSP00000496674.1:n.899C>G
ENST00000643619.1:c.*861C>G ENSP00000494378.1:n.*861C>G
ENST00000643752.1:c.*604C>G ENSP00000495000.1:n.*604C>G
ENST00000644088.1:c.*599C>G ENSP00000494066.1:n.*599C>G
ENST00000644591.1:c.*604C>G ENSP00000496664.1:n.*604C>G
ENST00000644895.1:c.*99+6215C>G ENSP00000493872.1:n.*99+6215C>G
ENST00000645345.1:c.*850C>G ENSP00000495859.1:n.*850C>G
ENST00000647524.1:c.*861C>G ENSP00000495077.1:n.*861C>G
ENST00000373189.5:c.1278C>G ENSP00000362285.5:p.Asn426Lys
ENST00000469204.1:n.775C>G
NM_001174098.1:c.*507C>G NP_001167569.1:n.*507C>G
NM_018344.5:c.1278C>G NP_060814.4:p.Asn426Lys
NR_033413.1:n.1252C>G
NR_033414.1:n.1025C>G
XM_006717910.2:c.1044C>G XP_006717973.1:p.Asn348Lys
NM_001363518.1:c.1044C>G NP_001350447.1:p.Asn348Lys
XM_017016377.2:c.840C>G XP_016871866.1:p.Asn280Lys
XM_017016378.2:c.660C>G XP_016871867.1:p.Asn220Lys
NM_018344.6:c.1278C>G MANE Select NP_060814.4:p.Asn426Lys
NM_001174098.2:c.*507C>G NP_001167569.1:n.*507C>G
NM_001363518.2:c.1044C>G NP_001350447.1:p.Asn348Lys
NR_033413.2:n.1246C>G
NR_033414.2:n.1019C>G