Canonical Allele Identifier: CA377114993
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362115T>G , CM000672.2:g.71362115T>G GRCh38
NC_000010.10:g.73121872T>G , CM000672.1:g.73121872T>G GRCh37
NC_000010.9:g.72791878T>G NCBI36
NG_017066.1:g.47863T>G
NG_017066.2:g.47857T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2411T>G
ENST00000373189.6:c.935T>G MANE Select ENSP00000362285.5:p.Val312Gly
ENST00000479577.2:c.701T>G ENSP00000493995.1:p.Val234Gly
ENST00000642198.1:c.*507T>G ENSP00000494827.1:n.*507T>G
ENST00000642772.1:c.*94+5872T>G ENSP00000495041.1:n.*94+5872T>G
ENST00000643042.1:c.556T>G ENSP00000496674.1:n.556T>G
ENST00000643619.1:c.*518T>G ENSP00000494378.1:n.*518T>G
ENST00000643752.1:c.*261T>G ENSP00000495000.1:n.*261T>G
ENST00000644088.1:c.*256T>G ENSP00000494066.1:n.*256T>G
ENST00000644591.1:c.*261T>G ENSP00000496664.1:n.*261T>G
ENST00000644895.1:c.*99+5872T>G ENSP00000493872.1:n.*99+5872T>G
ENST00000645345.1:c.*507T>G ENSP00000495859.1:n.*507T>G
ENST00000647524.1:c.*518T>G ENSP00000495077.1:n.*518T>G
ENST00000373189.5:c.935T>G ENSP00000362285.5:p.Val312Gly
ENST00000469204.1:n.432T>G
NM_001174098.1:c.*164T>G NP_001167569.1:n.*164T>G
NM_018344.5:c.935T>G NP_060814.4:p.Val312Gly
NR_033413.1:n.909T>G
NR_033414.1:n.682T>G
XM_006717910.2:c.701T>G XP_006717973.1:p.Val234Gly
NM_001363518.1:c.701T>G NP_001350447.1:p.Val234Gly
XM_017016377.2:c.497T>G XP_016871866.1:p.Val166Gly
XM_017016378.2:c.317T>G XP_016871867.1:p.Val106Gly
NM_018344.6:c.935T>G MANE Select NP_060814.4:p.Val312Gly
NM_001174098.2:c.*164T>G NP_001167569.1:n.*164T>G
NM_001363518.2:c.701T>G NP_001350447.1:p.Val234Gly
NR_033413.2:n.903T>G
NR_033414.2:n.676T>G