Canonical Allele Identifier: CA1918678409
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362218C= , CM000672.2:g.71362218C= GRCh38
NC_000010.10:g.73121975C= , CM000672.1:g.73121975C= GRCh37
NC_000010.9:g.72791981C= NCBI36
NG_017066.1:g.47966C=
NG_017066.2:g.47960C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2514C=
ENST00000373189.6:c.1038C= MANE Select ENSP00000362285.5:p.Phe346=
ENST00000479577.2:c.804C= ENSP00000493995.1:p.Phe268=
ENST00000642198.1:c.*610C= ENSP00000494827.1:n.*610C=
ENST00000642772.1:c.*94+5975C= ENSP00000495041.1:n.*94+5975C=
ENST00000643042.1:c.659C= ENSP00000496674.1:n.659C=
ENST00000643619.1:c.*621C= ENSP00000494378.1:n.*621C=
ENST00000643752.1:c.*364C= ENSP00000495000.1:n.*364C=
ENST00000644088.1:c.*359C= ENSP00000494066.1:n.*359C=
ENST00000644591.1:c.*364C= ENSP00000496664.1:n.*364C=
ENST00000644895.1:c.*99+5975C= ENSP00000493872.1:n.*99+5975C=
ENST00000645345.1:c.*610C= ENSP00000495859.1:n.*610C=
ENST00000647524.1:c.*621C= ENSP00000495077.1:n.*621C=
ENST00000373189.5:c.1038C= ENSP00000362285.5:p.Phe346=
ENST00000469204.1:n.535C=
NM_001174098.1:c.*267C= NP_001167569.1:n.*267C=
NM_018344.5:c.1038C= NP_060814.4:p.Phe346=
NR_033413.1:n.1012C=
NR_033414.1:n.785C=
XM_006717910.2:c.804C= XP_006717973.1:p.Phe268=
NM_001363518.1:c.804C= NP_001350447.1:p.Phe268=
XM_017016377.2:c.600C= XP_016871866.1:p.Phe200=
XM_017016378.2:c.420C= XP_016871867.1:p.Phe140=
NM_018344.6:c.1038C= MANE Select NP_060814.4:p.Phe346=
NM_001174098.2:c.*267C= NP_001167569.1:n.*267C=
NM_001363518.2:c.804C= NP_001350447.1:p.Phe268=
NR_033413.2:n.1006C=
NR_033414.2:n.779C=