Canonical Allele Identifier: CA377116944
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362337G>T , CM000672.2:g.71362337G>T GRCh38
NC_000010.10:g.73122094G>T , CM000672.1:g.73122094G>T GRCh37
NC_000010.9:g.72792100G>T NCBI36
NG_017066.1:g.48085G>T
NG_017066.2:g.48079G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2633G>T
ENST00000373189.6:c.1157G>T MANE Select ENSP00000362285.5:p.Arg386Leu
ENST00000479577.2:c.923G>T ENSP00000493995.1:p.Arg308Leu
ENST00000642198.1:c.*729G>T ENSP00000494827.1:n.*729G>T
ENST00000642772.1:c.*94+6094G>T ENSP00000495041.1:n.*94+6094G>T
ENST00000643042.1:c.778G>T ENSP00000496674.1:n.778G>T
ENST00000643619.1:c.*740G>T ENSP00000494378.1:n.*740G>T
ENST00000643752.1:c.*483G>T ENSP00000495000.1:n.*483G>T
ENST00000644088.1:c.*478G>T ENSP00000494066.1:n.*478G>T
ENST00000644591.1:c.*483G>T ENSP00000496664.1:n.*483G>T
ENST00000644895.1:c.*99+6094G>T ENSP00000493872.1:n.*99+6094G>T
ENST00000645345.1:c.*729G>T ENSP00000495859.1:n.*729G>T
ENST00000647524.1:c.*740G>T ENSP00000495077.1:n.*740G>T
ENST00000373189.5:c.1157G>T ENSP00000362285.5:p.Arg386Leu
ENST00000469204.1:n.654G>T
NM_001174098.1:c.*386G>T NP_001167569.1:n.*386G>T
NM_018344.5:c.1157G>T NP_060814.4:p.Arg386Leu
NR_033413.1:n.1131G>T
NR_033414.1:n.904G>T
XM_006717910.2:c.923G>T XP_006717973.1:p.Arg308Leu
NM_001363518.1:c.923G>T NP_001350447.1:p.Arg308Leu
XM_017016377.2:c.719G>T XP_016871866.1:p.Arg240Leu
XM_017016378.2:c.539G>T XP_016871867.1:p.Arg180Leu
NM_018344.6:c.1157G>T MANE Select NP_060814.4:p.Arg386Leu
NM_001174098.2:c.*386G>T NP_001167569.1:n.*386G>T
NM_001363518.2:c.923G>T NP_001350447.1:p.Arg308Leu
NR_033413.2:n.1125G>T
NR_033414.2:n.898G>T