Canonical Allele Identifier: CA377129618
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71344258T>G , CM000672.2:g.71344258T>G GRCh38
NC_000010.10:g.73104015T>G , CM000672.1:g.73104015T>G GRCh37
NC_000010.9:g.72774021T>G NCBI36
NG_017066.1:g.30006T>G
NG_017066.2:g.30000T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697843.1:n.796T>G
ENST00000373189.6:c.350T>G MANE Select ENSP00000362285.5:p.Leu117Arg
ENST00000479577.2:c.116T>G ENSP00000493995.1:p.Leu39Arg
ENST00000642198.1:c.67-7304T>G ENSP00000494827.1:n.67-7304T>G
ENST00000642772.1:c.301-11823T>G ENSP00000495041.1:n.301-11823T>G
ENST00000643042.1:c.232-11823T>G ENSP00000496674.1:n.232-11823T>G
ENST00000643619.1:c.116T>G ENSP00000494378.1:p.Leu39Arg
ENST00000643752.1:c.350T>G ENSP00000495000.1:p.Leu117Arg
ENST00000644088.1:c.301-11823T>G ENSP00000494066.1:n.301-11823T>G
ENST00000644591.1:c.301-7304T>G ENSP00000496664.1:n.301-7304T>G
ENST00000644895.1:c.301-7304T>G ENSP00000493872.1:n.301-7304T>G
ENST00000645345.1:c.301-7304T>G ENSP00000495859.1:n.301-7304T>G
ENST00000647524.1:c.350T>G ENSP00000495077.1:p.Leu117Arg
ENST00000373189.5:c.350T>G ENSP00000362285.5:p.Leu117Arg
NM_001174098.1:c.350T>G NP_001167569.1:p.Leu117Arg
NM_018344.5:c.350T>G NP_060814.4:p.Leu117Arg
NR_033413.1:n.358-7304T>G
NR_033414.1:n.358-11823T>G
XM_006717910.2:c.116T>G XP_006717973.1:p.Leu39Arg
XR_946051.1:n.626-2877A>C
NM_001363518.1:c.116T>G NP_001350447.1:p.Leu39Arg
XM_017016377.2:c.-55-7304T>G XP_016871866.1:n.-55-7304T>G
XM_017016378.2:c.-8-11823T>G XP_016871867.1:n.-8-11823T>G
XR_001747496.1:n.1552-2877A>C
XR_946051.2:n.1552-2877A>C
NM_018344.6:c.350T>G MANE Select NP_060814.4:p.Leu117Arg
NM_001174098.2:c.350T>G NP_001167569.1:p.Leu117Arg
NM_001363518.2:c.116T>G NP_001350447.1:p.Leu39Arg
NR_033413.2:n.352-7304T>G
NR_033414.2:n.352-11823T>G