Canonical Allele Identifier: CA377117085
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362409A>C , CM000672.2:g.71362409A>C GRCh38
NC_000010.10:g.73122166A>C , CM000672.1:g.73122166A>C GRCh37
NC_000010.9:g.72792172A>C NCBI36
NG_017066.1:g.48157A>C
NG_017066.2:g.48151A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2705A>C
ENST00000373189.6:c.1229A>C MANE Select ENSP00000362285.5:p.Gln410Pro
ENST00000479577.2:c.995A>C ENSP00000493995.1:p.Gln332Pro
ENST00000642198.1:c.*801A>C ENSP00000494827.1:n.*801A>C
ENST00000642772.1:c.*94+6166A>C ENSP00000495041.1:n.*94+6166A>C
ENST00000643042.1:c.850A>C ENSP00000496674.1:n.850A>C
ENST00000643619.1:c.*812A>C ENSP00000494378.1:n.*812A>C
ENST00000643752.1:c.*555A>C ENSP00000495000.1:n.*555A>C
ENST00000644088.1:c.*550A>C ENSP00000494066.1:n.*550A>C
ENST00000644591.1:c.*555A>C ENSP00000496664.1:n.*555A>C
ENST00000644895.1:c.*99+6166A>C ENSP00000493872.1:n.*99+6166A>C
ENST00000645345.1:c.*801A>C ENSP00000495859.1:n.*801A>C
ENST00000647524.1:c.*812A>C ENSP00000495077.1:n.*812A>C
ENST00000373189.5:c.1229A>C ENSP00000362285.5:p.Gln410Pro
ENST00000469204.1:n.726A>C
NM_001174098.1:c.*458A>C NP_001167569.1:n.*458A>C
NM_018344.5:c.1229A>C NP_060814.4:p.Gln410Pro
NR_033413.1:n.1203A>C
NR_033414.1:n.976A>C
XM_006717910.2:c.995A>C XP_006717973.1:p.Gln332Pro
NM_001363518.1:c.995A>C NP_001350447.1:p.Gln332Pro
XM_017016377.2:c.791A>C XP_016871866.1:p.Gln264Pro
XM_017016378.2:c.611A>C XP_016871867.1:p.Gln204Pro
NM_018344.6:c.1229A>C MANE Select NP_060814.4:p.Gln410Pro
NM_001174098.2:c.*458A>C NP_001167569.1:n.*458A>C
NM_001363518.2:c.995A>C NP_001350447.1:p.Gln332Pro
NR_033413.2:n.1197A>C
NR_033414.2:n.970A>C