Canonical Allele Identifier: CA377116260
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362252G>C , CM000672.2:g.71362252G>C GRCh38
NC_000010.10:g.73122009G>C , CM000672.1:g.73122009G>C GRCh37
NC_000010.9:g.72792015G>C NCBI36
NG_017066.1:g.48000G>C
NG_017066.2:g.47994G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2548G>C
ENST00000373189.6:c.1072G>C MANE Select ENSP00000362285.5:p.Ala358Pro
ENST00000479577.2:c.838G>C ENSP00000493995.1:p.Ala280Pro
ENST00000642198.1:c.*644G>C ENSP00000494827.1:n.*644G>C
ENST00000642772.1:c.*94+6009G>C ENSP00000495041.1:n.*94+6009G>C
ENST00000643042.1:c.693G>C ENSP00000496674.1:n.693G>C
ENST00000643619.1:c.*655G>C ENSP00000494378.1:n.*655G>C
ENST00000643752.1:c.*398G>C ENSP00000495000.1:n.*398G>C
ENST00000644088.1:c.*393G>C ENSP00000494066.1:n.*393G>C
ENST00000644591.1:c.*398G>C ENSP00000496664.1:n.*398G>C
ENST00000644895.1:c.*99+6009G>C ENSP00000493872.1:n.*99+6009G>C
ENST00000645345.1:c.*644G>C ENSP00000495859.1:n.*644G>C
ENST00000647524.1:c.*655G>C ENSP00000495077.1:n.*655G>C
ENST00000373189.5:c.1072G>C ENSP00000362285.5:p.Ala358Pro
ENST00000469204.1:n.569G>C
NM_001174098.1:c.*301G>C NP_001167569.1:n.*301G>C
NM_018344.5:c.1072G>C NP_060814.4:p.Ala358Pro
NR_033413.1:n.1046G>C
NR_033414.1:n.819G>C
XM_006717910.2:c.838G>C XP_006717973.1:p.Ala280Pro
NM_001363518.1:c.838G>C NP_001350447.1:p.Ala280Pro
XM_017016377.2:c.634G>C XP_016871866.1:p.Ala212Pro
XM_017016378.2:c.454G>C XP_016871867.1:p.Ala152Pro
NM_018344.6:c.1072G>C MANE Select NP_060814.4:p.Ala358Pro
NM_001174098.2:c.*301G>C NP_001167569.1:n.*301G>C
NM_001363518.2:c.838G>C NP_001350447.1:p.Ala280Pro
NR_033413.2:n.1040G>C
NR_033414.2:n.813G>C