Canonical Allele Identifier: CA377115540
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362187G>C , CM000672.2:g.71362187G>C GRCh38
NC_000010.10:g.73121944G>C , CM000672.1:g.73121944G>C GRCh37
NC_000010.9:g.72791950G>C NCBI36
NG_017066.1:g.47935G>C
NG_017066.2:g.47929G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2483G>C
ENST00000373189.6:c.1007G>C MANE Select ENSP00000362285.5:p.Gly336Ala
ENST00000479577.2:c.773G>C ENSP00000493995.1:p.Gly258Ala
ENST00000642198.1:c.*579G>C ENSP00000494827.1:n.*579G>C
ENST00000642772.1:c.*94+5944G>C ENSP00000495041.1:n.*94+5944G>C
ENST00000643042.1:c.628G>C ENSP00000496674.1:n.628G>C
ENST00000643619.1:c.*590G>C ENSP00000494378.1:n.*590G>C
ENST00000643752.1:c.*333G>C ENSP00000495000.1:n.*333G>C
ENST00000644088.1:c.*328G>C ENSP00000494066.1:n.*328G>C
ENST00000644591.1:c.*333G>C ENSP00000496664.1:n.*333G>C
ENST00000644895.1:c.*99+5944G>C ENSP00000493872.1:n.*99+5944G>C
ENST00000645345.1:c.*579G>C ENSP00000495859.1:n.*579G>C
ENST00000647524.1:c.*590G>C ENSP00000495077.1:n.*590G>C
ENST00000373189.5:c.1007G>C ENSP00000362285.5:p.Gly336Ala
ENST00000469204.1:n.504G>C
NM_001174098.1:c.*236G>C NP_001167569.1:n.*236G>C
NM_018344.5:c.1007G>C NP_060814.4:p.Gly336Ala
NR_033413.1:n.981G>C
NR_033414.1:n.754G>C
XM_006717910.2:c.773G>C XP_006717973.1:p.Gly258Ala
NM_001363518.1:c.773G>C NP_001350447.1:p.Gly258Ala
XM_017016377.2:c.569G>C XP_016871866.1:p.Gly190Ala
XM_017016378.2:c.389G>C XP_016871867.1:p.Gly130Ala
NM_018344.6:c.1007G>C MANE Select NP_060814.4:p.Gly336Ala
NM_001174098.2:c.*236G>C NP_001167569.1:n.*236G>C
NM_001363518.2:c.773G>C NP_001350447.1:p.Gly258Ala
NR_033413.2:n.975G>C
NR_033414.2:n.748G>C