Canonical Allele Identifier: CA470281227
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73121954A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362197A>C , CM000672.2:g.71362197A>C GRCh38
NC_000010.10:g.73121954A>C , CM000672.1:g.73121954A>C GRCh37
NC_000010.9:g.72791960A>C NCBI36
NG_017066.1:g.47945A>C
NG_017066.2:g.47939A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000697843.1:n.2493A>C
ENST00000373189.6:c.1017A>C MANE Select ENSP00000362285.5:p.Ser339=
ENST00000479577.2:c.783A>C ENSP00000493995.1:p.Ser261=
ENST00000642198.1:c.*589A>C ENSP00000494827.1:n.*589A>C
ENST00000642772.1:c.*94+5954A>C ENSP00000495041.1:n.*94+5954A>C
ENST00000643042.1:c.638A>C ENSP00000496674.1:n.638A>C
ENST00000643619.1:c.*600A>C ENSP00000494378.1:n.*600A>C
ENST00000643752.1:c.*343A>C ENSP00000495000.1:n.*343A>C
ENST00000644088.1:c.*338A>C ENSP00000494066.1:n.*338A>C
ENST00000644591.1:c.*343A>C ENSP00000496664.1:n.*343A>C
ENST00000644895.1:c.*99+5954A>C ENSP00000493872.1:n.*99+5954A>C
ENST00000645345.1:c.*589A>C ENSP00000495859.1:n.*589A>C
ENST00000647524.1:c.*600A>C ENSP00000495077.1:n.*600A>C
ENST00000373189.5:c.1017A>C ENSP00000362285.5:p.Ser339=
ENST00000469204.1:n.514A>C
NM_001174098.1:c.*246A>C NP_001167569.1:n.*246A>C
NM_018344.5:c.1017A>C NP_060814.4:p.Ser339=
NR_033413.1:n.991A>C
NR_033414.1:n.764A>C
XM_006717910.2:c.783A>C XP_006717973.1:p.Ser261=
NM_001363518.1:c.783A>C NP_001350447.1:p.Ser261=
XM_017016377.2:c.579A>C XP_016871866.1:p.Ser193=
XM_017016378.2:c.399A>C XP_016871867.1:p.Ser133=
NM_018344.6:c.1017A>C MANE Select NP_060814.4:p.Ser339=
NM_001174098.2:c.*246A>C NP_001167569.1:n.*246A>C
NM_001363518.2:c.783A>C NP_001350447.1:p.Ser261=
NR_033413.2:n.985A>C
NR_033414.2:n.758A>C