Canonical Allele Identifier: CA377115345
Gene: SLC29A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362166A>C , CM000672.2:g.71362166A>C GRCh38
NC_000010.10:g.73121923A>C , CM000672.1:g.73121923A>C GRCh37
NC_000010.9:g.72791929A>C NCBI36
NG_017066.1:g.47914A>C
NG_017066.2:g.47908A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2462A>C
ENST00000373189.6:c.986A>C MANE Select ENSP00000362285.5:p.Asn329Thr
ENST00000479577.2:c.752A>C ENSP00000493995.1:p.Asn251Thr
ENST00000642198.1:c.*558A>C ENSP00000494827.1:n.*558A>C
ENST00000642772.1:c.*94+5923A>C ENSP00000495041.1:n.*94+5923A>C
ENST00000643042.1:c.607A>C ENSP00000496674.1:n.607A>C
ENST00000643619.1:c.*569A>C ENSP00000494378.1:n.*569A>C
ENST00000643752.1:c.*312A>C ENSP00000495000.1:n.*312A>C
ENST00000644088.1:c.*307A>C ENSP00000494066.1:n.*307A>C
ENST00000644591.1:c.*312A>C ENSP00000496664.1:n.*312A>C
ENST00000644895.1:c.*99+5923A>C ENSP00000493872.1:n.*99+5923A>C
ENST00000645345.1:c.*558A>C ENSP00000495859.1:n.*558A>C
ENST00000647524.1:c.*569A>C ENSP00000495077.1:n.*569A>C
ENST00000373189.5:c.986A>C ENSP00000362285.5:p.Asn329Thr
ENST00000469204.1:n.483A>C
NM_001174098.1:c.*215A>C NP_001167569.1:n.*215A>C
NM_018344.5:c.986A>C NP_060814.4:p.Asn329Thr
NR_033413.1:n.960A>C
NR_033414.1:n.733A>C
XM_006717910.2:c.752A>C XP_006717973.1:p.Asn251Thr
NM_001363518.1:c.752A>C NP_001350447.1:p.Asn251Thr
XM_017016377.2:c.548A>C XP_016871866.1:p.Asn183Thr
XM_017016378.2:c.368A>C XP_016871867.1:p.Asn123Thr
NM_018344.6:c.986A>C MANE Select NP_060814.4:p.Asn329Thr
NM_001174098.2:c.*215A>C NP_001167569.1:n.*215A>C
NM_001363518.2:c.752A>C NP_001350447.1:p.Asn251Thr
NR_033413.2:n.954A>C
NR_033414.2:n.727A>C