Canonical Allele Identifier: CA377114075
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362013A>C , CM000672.2:g.71362013A>C GRCh38
NC_000010.10:g.73121770A>C , CM000672.1:g.73121770A>C GRCh37
NC_000010.9:g.72791776A>C NCBI36
NG_017066.1:g.47761A>C
NG_017066.2:g.47755A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2309A>C
ENST00000373189.6:c.833A>C MANE Select ENSP00000362285.5:p.Gln278Pro
ENST00000479577.2:c.599A>C ENSP00000493995.1:p.Gln200Pro
ENST00000642198.1:c.*405A>C ENSP00000494827.1:n.*405A>C
ENST00000642772.1:c.*94+5770A>C ENSP00000495041.1:n.*94+5770A>C
ENST00000643042.1:c.454A>C ENSP00000496674.1:n.454A>C
ENST00000643619.1:c.*416A>C ENSP00000494378.1:n.*416A>C
ENST00000643752.1:c.*159A>C ENSP00000495000.1:n.*159A>C
ENST00000644088.1:c.*154A>C ENSP00000494066.1:n.*154A>C
ENST00000644591.1:c.*159A>C ENSP00000496664.1:n.*159A>C
ENST00000644895.1:c.*99+5770A>C ENSP00000493872.1:n.*99+5770A>C
ENST00000645345.1:c.*405A>C ENSP00000495859.1:n.*405A>C
ENST00000647524.1:c.*416A>C ENSP00000495077.1:n.*416A>C
ENST00000373189.5:c.833A>C ENSP00000362285.5:p.Gln278Pro
ENST00000469204.1:n.330A>C
NM_001174098.1:c.*62A>C NP_001167569.1:n.*62A>C
NM_018344.5:c.833A>C NP_060814.4:p.Gln278Pro
NR_033413.1:n.807A>C
NR_033414.1:n.580A>C
XM_006717910.2:c.599A>C XP_006717973.1:p.Gln200Pro
NM_001363518.1:c.599A>C NP_001350447.1:p.Gln200Pro
XM_017016377.2:c.395A>C XP_016871866.1:p.Gln132Pro
XM_017016378.2:c.215A>C XP_016871867.1:p.Gln72Pro
NM_018344.6:c.833A>C MANE Select NP_060814.4:p.Gln278Pro
NM_001174098.2:c.*62A>C NP_001167569.1:n.*62A>C
NM_001363518.2:c.599A>C NP_001350447.1:p.Gln200Pro
NR_033413.2:n.801A>C
NR_033414.2:n.574A>C