Canonical Allele Identifier: CA1918678515
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362455_71362456delinsCA , CM000672.2:g.71362455_71362456delinsCA GRCh38
NC_000010.10:g.73122212_73122213delinsCA , CM000672.1:g.73122212_73122213delinsCA GRCh37
NC_000010.9:g.72792218_72792219delinsCA NCBI36
NG_017066.1:g.48203_48204delinsCA
NG_017066.2:g.48197_48198delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2751_2752delinsCA
ENST00000373189.6:c.1275_1276delinsCA MANE Select ENSP00000362285.5:p.Ser425=
ENST00000479577.2:c.1041_1042delinsCA ENSP00000493995.1:p.Ser347=
ENST00000642198.1:c.*847_*848delinsCA ENSP00000494827.1:n.*847_*848delinsCA
ENST00000642772.1:c.*94+6212_*94+6213delinsCA ENSP00000495041.1:n.*94+6212_*94+6213delinsCA
ENST00000643042.1:c.896_897delinsCA ENSP00000496674.1:n.896_897delinsCA
ENST00000643619.1:c.*858_*859delinsCA ENSP00000494378.1:n.*858_*859delinsCA
ENST00000643752.1:c.*601_*602delinsCA ENSP00000495000.1:n.*601_*602delinsCA
ENST00000644088.1:c.*596_*597delinsCA ENSP00000494066.1:n.*596_*597delinsCA
ENST00000644591.1:c.*601_*602delinsCA ENSP00000496664.1:n.*601_*602delinsCA
ENST00000644895.1:c.*99+6212_*99+6213delinsCA ENSP00000493872.1:n.*99+6212_*99+6213delinsCA
ENST00000645345.1:c.*847_*848delinsCA ENSP00000495859.1:n.*847_*848delinsCA
ENST00000647524.1:c.*858_*859delinsCA ENSP00000495077.1:n.*858_*859delinsCA
ENST00000373189.5:c.1275_1276delinsCA ENSP00000362285.5:p.Ser425=
ENST00000469204.1:n.772_773delinsCA
NM_001174098.1:c.*504_*505delinsCA NP_001167569.1:n.*504_*505delinsCA
NM_018344.5:c.1275_1276delinsCA NP_060814.4:p.Ser425=
NR_033413.1:n.1249_1250delinsCA
NR_033414.1:n.1022_1023delinsCA
XM_006717910.2:c.1041_1042delinsCA XP_006717973.1:p.Ser347=
NM_001363518.1:c.1041_1042delinsCA NP_001350447.1:p.Ser347=
XM_017016377.2:c.837_838delinsCA XP_016871866.1:p.Ser279=
XM_017016378.2:c.657_658delinsCA XP_016871867.1:p.Ser219=
NM_018344.6:c.1275_1276delinsCA MANE Select NP_060814.4:p.Ser425=
NM_001174098.2:c.*504_*505delinsCA NP_001167569.1:n.*504_*505delinsCA
NM_001363518.2:c.1041_1042delinsCA NP_001350447.1:p.Ser347=
NR_033413.2:n.1243_1244delinsCA
NR_033414.2:n.1016_1017delinsCA