Canonical Allele Identifier: CA470280749
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73121732T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71361975T>G , CM000672.2:g.71361975T>G GRCh38
NC_000010.10:g.73121732T>G , CM000672.1:g.73121732T>G GRCh37
NC_000010.9:g.72791738T>G NCBI36
NG_017066.1:g.47723T>G
NG_017066.2:g.47717T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2271T>G
ENST00000373189.6:c.795T>G MANE Select ENSP00000362285.5:p.Leu265=
ENST00000479577.2:c.561T>G ENSP00000493995.1:p.Leu187=
ENST00000642198.1:c.*367T>G ENSP00000494827.1:n.*367T>G
ENST00000642772.1:c.*94+5732T>G ENSP00000495041.1:n.*94+5732T>G
ENST00000643042.1:c.416T>G ENSP00000496674.1:n.416T>G
ENST00000643619.1:c.*378T>G ENSP00000494378.1:n.*378T>G
ENST00000643752.1:c.*121T>G ENSP00000495000.1:n.*121T>G
ENST00000644088.1:c.*116T>G ENSP00000494066.1:n.*116T>G
ENST00000644591.1:c.*121T>G ENSP00000496664.1:n.*121T>G
ENST00000644895.1:c.*99+5732T>G ENSP00000493872.1:n.*99+5732T>G
ENST00000645345.1:c.*367T>G ENSP00000495859.1:n.*367T>G
ENST00000647524.1:c.*378T>G ENSP00000495077.1:n.*378T>G
ENST00000373189.5:c.795T>G ENSP00000362285.5:p.Leu265=
ENST00000469204.1:n.292T>G
NM_001174098.1:c.*24T>G NP_001167569.1:n.*24T>G
NM_018344.5:c.795T>G NP_060814.4:p.Leu265=
NR_033413.1:n.769T>G
NR_033414.1:n.542T>G
XM_006717910.2:c.561T>G XP_006717973.1:p.Leu187=
NM_001363518.1:c.561T>G NP_001350447.1:p.Leu187=
XM_017016377.2:c.357T>G XP_016871866.1:p.Leu119=
XM_017016378.2:c.177T>G XP_016871867.1:p.Leu59=
NM_018344.6:c.795T>G MANE Select NP_060814.4:p.Leu265=
NM_001174098.2:c.*24T>G NP_001167569.1:n.*24T>G
NM_001363518.2:c.561T>G NP_001350447.1:p.Leu187=
NR_033413.2:n.763T>G
NR_033414.2:n.536T>G