Canonical Allele Identifier: CA377114066
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362012C>T , CM000672.2:g.71362012C>T GRCh38
NC_000010.10:g.73121769C>T , CM000672.1:g.73121769C>T GRCh37
NC_000010.9:g.72791775C>T NCBI36
NG_017066.1:g.47760C>T
NG_017066.2:g.47754C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2308C>T
ENST00000373189.6:c.832C>T MANE Select ENSP00000362285.5:p.Gln278Ter
ENST00000479577.2:c.598C>T ENSP00000493995.1:p.Gln200Ter
ENST00000642198.1:c.*404C>T ENSP00000494827.1:n.*404C>T
ENST00000642772.1:c.*94+5769C>T ENSP00000495041.1:n.*94+5769C>T
ENST00000643042.1:c.453C>T ENSP00000496674.1:n.453C>T
ENST00000643619.1:c.*415C>T ENSP00000494378.1:n.*415C>T
ENST00000643752.1:c.*158C>T ENSP00000495000.1:n.*158C>T
ENST00000644088.1:c.*153C>T ENSP00000494066.1:n.*153C>T
ENST00000644591.1:c.*158C>T ENSP00000496664.1:n.*158C>T
ENST00000644895.1:c.*99+5769C>T ENSP00000493872.1:n.*99+5769C>T
ENST00000645345.1:c.*404C>T ENSP00000495859.1:n.*404C>T
ENST00000647524.1:c.*415C>T ENSP00000495077.1:n.*415C>T
ENST00000373189.5:c.832C>T ENSP00000362285.5:p.Gln278Ter
ENST00000469204.1:n.329C>T
NM_001174098.1:c.*61C>T NP_001167569.1:n.*61C>T
NM_018344.5:c.832C>T NP_060814.4:p.Gln278Ter
NR_033413.1:n.806C>T
NR_033414.1:n.579C>T
XM_006717910.2:c.598C>T XP_006717973.1:p.Gln200Ter
NM_001363518.1:c.598C>T NP_001350447.1:p.Gln200Ter
XM_017016377.2:c.394C>T XP_016871866.1:p.Gln132Ter
XM_017016378.2:c.214C>T XP_016871867.1:p.Gln72Ter
NM_018344.6:c.832C>T MANE Select NP_060814.4:p.Gln278Ter
NM_001174098.2:c.*61C>T NP_001167569.1:n.*61C>T
NM_001363518.2:c.598C>T NP_001350447.1:p.Gln200Ter
NR_033413.2:n.800C>T
NR_033414.2:n.573C>T