Canonical Allele Identifier: CA470281472
Gene: SLC29A3 HGNC NCBI

Linked Data

dbSNP Id: rs1323486321
MyVariant Identifiers: chr10:g.73122185A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362428A>C , CM000672.2:g.71362428A>C GRCh38
NC_000010.10:g.73122185A>C , CM000672.1:g.73122185A>C GRCh37
NC_000010.9:g.72792191A>C NCBI36
NG_017066.1:g.48176A>C
NG_017066.2:g.48170A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2724A>C
ENST00000373189.6:c.1248A>C MANE Select ENSP00000362285.5:p.Ala416=
ENST00000479577.2:c.1014A>C ENSP00000493995.1:p.Ala338=
ENST00000642198.1:c.*820A>C ENSP00000494827.1:n.*820A>C
ENST00000642772.1:c.*94+6185A>C ENSP00000495041.1:n.*94+6185A>C
ENST00000643042.1:c.869A>C ENSP00000496674.1:n.869A>C
ENST00000643619.1:c.*831A>C ENSP00000494378.1:n.*831A>C
ENST00000643752.1:c.*574A>C ENSP00000495000.1:n.*574A>C
ENST00000644088.1:c.*569A>C ENSP00000494066.1:n.*569A>C
ENST00000644591.1:c.*574A>C ENSP00000496664.1:n.*574A>C
ENST00000644895.1:c.*99+6185A>C ENSP00000493872.1:n.*99+6185A>C
ENST00000645345.1:c.*820A>C ENSP00000495859.1:n.*820A>C
ENST00000647524.1:c.*831A>C ENSP00000495077.1:n.*831A>C
ENST00000373189.5:c.1248A>C ENSP00000362285.5:p.Ala416=
ENST00000469204.1:n.745A>C
NM_001174098.1:c.*477A>C NP_001167569.1:n.*477A>C
NM_018344.5:c.1248A>C NP_060814.4:p.Ala416=
NR_033413.1:n.1222A>C
NR_033414.1:n.995A>C
XM_006717910.2:c.1014A>C XP_006717973.1:p.Ala338=
NM_001363518.1:c.1014A>C NP_001350447.1:p.Ala338=
XM_017016377.2:c.810A>C XP_016871866.1:p.Ala270=
XM_017016378.2:c.630A>C XP_016871867.1:p.Ala210=
NM_018344.6:c.1248A>C MANE Select NP_060814.4:p.Ala416=
NM_001174098.2:c.*477A>C NP_001167569.1:n.*477A>C
NM_001363518.2:c.1014A>C NP_001350447.1:p.Ala338=
NR_033413.2:n.1216A>C
NR_033414.2:n.989A>C