Canonical Allele Identifier: CA470281344
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73122113C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362356C>G , CM000672.2:g.71362356C>G GRCh38
NC_000010.10:g.73122113C>G , CM000672.1:g.73122113C>G GRCh37
NC_000010.9:g.72792119C>G NCBI36
NG_017066.1:g.48104C>G
NG_017066.2:g.48098C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2652C>G
ENST00000373189.6:c.1176C>G MANE Select ENSP00000362285.5:p.Leu392=
ENST00000479577.2:c.942C>G ENSP00000493995.1:p.Leu314=
ENST00000642198.1:c.*748C>G ENSP00000494827.1:n.*748C>G
ENST00000642772.1:c.*94+6113C>G ENSP00000495041.1:n.*94+6113C>G
ENST00000643042.1:c.797C>G ENSP00000496674.1:n.797C>G
ENST00000643619.1:c.*759C>G ENSP00000494378.1:n.*759C>G
ENST00000643752.1:c.*502C>G ENSP00000495000.1:n.*502C>G
ENST00000644088.1:c.*497C>G ENSP00000494066.1:n.*497C>G
ENST00000644591.1:c.*502C>G ENSP00000496664.1:n.*502C>G
ENST00000644895.1:c.*99+6113C>G ENSP00000493872.1:n.*99+6113C>G
ENST00000645345.1:c.*748C>G ENSP00000495859.1:n.*748C>G
ENST00000647524.1:c.*759C>G ENSP00000495077.1:n.*759C>G
ENST00000373189.5:c.1176C>G ENSP00000362285.5:p.Leu392=
ENST00000469204.1:n.673C>G
NM_001174098.1:c.*405C>G NP_001167569.1:n.*405C>G
NM_018344.5:c.1176C>G NP_060814.4:p.Leu392=
NR_033413.1:n.1150C>G
NR_033414.1:n.923C>G
XM_006717910.2:c.942C>G XP_006717973.1:p.Leu314=
NM_001363518.1:c.942C>G NP_001350447.1:p.Leu314=
XM_017016377.2:c.738C>G XP_016871866.1:p.Leu246=
XM_017016378.2:c.558C>G XP_016871867.1:p.Leu186=
NM_018344.6:c.1176C>G MANE Select NP_060814.4:p.Leu392=
NM_001174098.2:c.*405C>G NP_001167569.1:n.*405C>G
NM_001363518.2:c.942C>G NP_001350447.1:p.Leu314=
NR_033413.2:n.1144C>G
NR_033414.2:n.917C>G