Canonical Allele Identifier: CA470281523
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73122074C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362317C>G , CM000672.2:g.71362317C>G GRCh38
NC_000010.10:g.73122074C>G , CM000672.1:g.73122074C>G GRCh37
NC_000010.9:g.72792080C>G NCBI36
NG_017066.1:g.48065C>G
NG_017066.2:g.48059C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2613C>G
ENST00000373189.6:c.1137C>G MANE Select ENSP00000362285.5:p.Leu379=
ENST00000479577.2:c.903C>G ENSP00000493995.1:p.Leu301=
ENST00000642198.1:c.*709C>G ENSP00000494827.1:n.*709C>G
ENST00000642772.1:c.*94+6074C>G ENSP00000495041.1:n.*94+6074C>G
ENST00000643042.1:c.758C>G ENSP00000496674.1:n.758C>G
ENST00000643619.1:c.*720C>G ENSP00000494378.1:n.*720C>G
ENST00000643752.1:c.*463C>G ENSP00000495000.1:n.*463C>G
ENST00000644088.1:c.*458C>G ENSP00000494066.1:n.*458C>G
ENST00000644591.1:c.*463C>G ENSP00000496664.1:n.*463C>G
ENST00000644895.1:c.*99+6074C>G ENSP00000493872.1:n.*99+6074C>G
ENST00000645345.1:c.*709C>G ENSP00000495859.1:n.*709C>G
ENST00000647524.1:c.*720C>G ENSP00000495077.1:n.*720C>G
ENST00000373189.5:c.1137C>G ENSP00000362285.5:p.Leu379=
ENST00000469204.1:n.634C>G
NM_001174098.1:c.*366C>G NP_001167569.1:n.*366C>G
NM_018344.5:c.1137C>G NP_060814.4:p.Leu379=
NR_033413.1:n.1111C>G
NR_033414.1:n.884C>G
XM_006717910.2:c.903C>G XP_006717973.1:p.Leu301=
NM_001363518.1:c.903C>G NP_001350447.1:p.Leu301=
XM_017016377.2:c.699C>G XP_016871866.1:p.Leu233=
XM_017016378.2:c.519C>G XP_016871867.1:p.Leu173=
NM_018344.6:c.1137C>G MANE Select NP_060814.4:p.Leu379=
NM_001174098.2:c.*366C>G NP_001167569.1:n.*366C>G
NM_001363518.2:c.903C>G NP_001350447.1:p.Leu301=
NR_033413.2:n.1105C>G
NR_033414.2:n.878C>G