Canonical Allele Identifier: CA1918670578
Gene: SLC29A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71344286C= , CM000672.2:g.71344286C= GRCh38
NC_000010.10:g.73104043C= , CM000672.1:g.73104043C= GRCh37
NC_000010.9:g.72774049C= NCBI36
NG_017066.1:g.30034C=
NG_017066.2:g.30028C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.824C=
ENST00000373189.6:c.378C= MANE Select ENSP00000362285.5:p.Val126=
ENST00000479577.2:c.144C= ENSP00000493995.1:p.Val48=
ENST00000642198.1:c.67-7276C= ENSP00000494827.1:n.67-7276C=
ENST00000642772.1:c.301-11795C= ENSP00000495041.1:n.301-11795C=
ENST00000643042.1:c.232-11795C= ENSP00000496674.1:n.232-11795C=
ENST00000643619.1:c.144C= ENSP00000494378.1:p.Val48=
ENST00000643752.1:c.378C= ENSP00000495000.1:p.Val126=
ENST00000644088.1:c.301-11795C= ENSP00000494066.1:n.301-11795C=
ENST00000644591.1:c.301-7276C= ENSP00000496664.1:n.301-7276C=
ENST00000644895.1:c.301-7276C= ENSP00000493872.1:n.301-7276C=
ENST00000645345.1:c.301-7276C= ENSP00000495859.1:n.301-7276C=
ENST00000647524.1:c.378C= ENSP00000495077.1:p.Val126=
ENST00000373189.5:c.378C= ENSP00000362285.5:p.Val126=
NM_001174098.1:c.378C= NP_001167569.1:p.Val126=
NM_018344.5:c.378C= NP_060814.4:p.Val126=
NR_033413.1:n.358-7276C=
NR_033414.1:n.358-11795C=
XM_006717910.2:c.144C= XP_006717973.1:p.Val48=
XR_946051.1:n.626-2905G=
NM_001363518.1:c.144C= NP_001350447.1:p.Val48=
XM_017016377.2:c.-55-7276C= XP_016871866.1:n.-55-7276C=
XM_017016378.2:c.-8-11795C= XP_016871867.1:n.-8-11795C=
XR_001747496.1:n.1552-2905G=
XR_946051.2:n.1552-2905G=
NM_018344.6:c.378C= MANE Select NP_060814.4:p.Val126=
NM_001174098.2:c.378C= NP_001167569.1:p.Val126=
NM_001363518.2:c.144C= NP_001350447.1:p.Val48=
NR_033413.2:n.352-7276C=
NR_033414.2:n.352-11795C=