Canonical Allele Identifier: CA470281181
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73121912C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362155C>G , CM000672.2:g.71362155C>G GRCh38
NC_000010.10:g.73121912C>G , CM000672.1:g.73121912C>G GRCh37
NC_000010.9:g.72791918C>G NCBI36
NG_017066.1:g.47903C>G
NG_017066.2:g.47897C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2451C>G
ENST00000373189.6:c.975C>G MANE Select ENSP00000362285.5:p.Ala325=
ENST00000479577.2:c.741C>G ENSP00000493995.1:p.Ala247=
ENST00000642198.1:c.*547C>G ENSP00000494827.1:n.*547C>G
ENST00000642772.1:c.*94+5912C>G ENSP00000495041.1:n.*94+5912C>G
ENST00000643042.1:c.596C>G ENSP00000496674.1:n.596C>G
ENST00000643619.1:c.*558C>G ENSP00000494378.1:n.*558C>G
ENST00000643752.1:c.*301C>G ENSP00000495000.1:n.*301C>G
ENST00000644088.1:c.*296C>G ENSP00000494066.1:n.*296C>G
ENST00000644591.1:c.*301C>G ENSP00000496664.1:n.*301C>G
ENST00000644895.1:c.*99+5912C>G ENSP00000493872.1:n.*99+5912C>G
ENST00000645345.1:c.*547C>G ENSP00000495859.1:n.*547C>G
ENST00000647524.1:c.*558C>G ENSP00000495077.1:n.*558C>G
ENST00000373189.5:c.975C>G ENSP00000362285.5:p.Ala325=
ENST00000469204.1:n.472C>G
NM_001174098.1:c.*204C>G NP_001167569.1:n.*204C>G
NM_018344.5:c.975C>G NP_060814.4:p.Ala325=
NR_033413.1:n.949C>G
NR_033414.1:n.722C>G
XM_006717910.2:c.741C>G XP_006717973.1:p.Ala247=
NM_001363518.1:c.741C>G NP_001350447.1:p.Ala247=
XM_017016377.2:c.537C>G XP_016871866.1:p.Ala179=
XM_017016378.2:c.357C>G XP_016871867.1:p.Ala119=
NM_018344.6:c.975C>G MANE Select NP_060814.4:p.Ala325=
NM_001174098.2:c.*204C>G NP_001167569.1:n.*204C>G
NM_001363518.2:c.741C>G NP_001350447.1:p.Ala247=
NR_033413.2:n.943C>G
NR_033414.2:n.716C>G