Canonical Allele Identifier: CA1918678478
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362383C= , CM000672.2:g.71362383C= GRCh38
NC_000010.10:g.73122140C= , CM000672.1:g.73122140C= GRCh37
NC_000010.9:g.72792146C= NCBI36
NG_017066.1:g.48131C=
NG_017066.2:g.48125C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2679C=
ENST00000373189.6:c.1203C= MANE Select ENSP00000362285.5:p.Arg401=
ENST00000479577.2:c.969C= ENSP00000493995.1:p.Arg323=
ENST00000642198.1:c.*775C= ENSP00000494827.1:n.*775C=
ENST00000642772.1:c.*94+6140C= ENSP00000495041.1:n.*94+6140C=
ENST00000643042.1:c.824C= ENSP00000496674.1:n.824C=
ENST00000643619.1:c.*786C= ENSP00000494378.1:n.*786C=
ENST00000643752.1:c.*529C= ENSP00000495000.1:n.*529C=
ENST00000644088.1:c.*524C= ENSP00000494066.1:n.*524C=
ENST00000644591.1:c.*529C= ENSP00000496664.1:n.*529C=
ENST00000644895.1:c.*99+6140C= ENSP00000493872.1:n.*99+6140C=
ENST00000645345.1:c.*775C= ENSP00000495859.1:n.*775C=
ENST00000647524.1:c.*786C= ENSP00000495077.1:n.*786C=
ENST00000373189.5:c.1203C= ENSP00000362285.5:p.Arg401=
ENST00000469204.1:n.700C=
NM_001174098.1:c.*432C= NP_001167569.1:n.*432C=
NM_018344.5:c.1203C= NP_060814.4:p.Arg401=
NR_033413.1:n.1177C=
NR_033414.1:n.950C=
XM_006717910.2:c.969C= XP_006717973.1:p.Arg323=
NM_001363518.1:c.969C= NP_001350447.1:p.Arg323=
XM_017016377.2:c.765C= XP_016871866.1:p.Arg255=
XM_017016378.2:c.585C= XP_016871867.1:p.Arg195=
NM_018344.6:c.1203C= MANE Select NP_060814.4:p.Arg401=
NM_001174098.2:c.*432C= NP_001167569.1:n.*432C=
NM_001363518.2:c.969C= NP_001350447.1:p.Arg323=
NR_033413.2:n.1171C=
NR_033414.2:n.944C=