Canonical Allele Identifier: CA470281506
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73122200G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362443G>A , CM000672.2:g.71362443G>A GRCh38
NC_000010.10:g.73122200G>A , CM000672.1:g.73122200G>A GRCh37
NC_000010.9:g.72792206G>A NCBI36
NG_017066.1:g.48191G>A
NG_017066.2:g.48185G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2739G>A
ENST00000373189.6:c.1263G>A MANE Select ENSP00000362285.5:p.Leu421=
ENST00000479577.2:c.1029G>A ENSP00000493995.1:p.Leu343=
ENST00000642198.1:c.*835G>A ENSP00000494827.1:n.*835G>A
ENST00000642772.1:c.*94+6200G>A ENSP00000495041.1:n.*94+6200G>A
ENST00000643042.1:c.884G>A ENSP00000496674.1:n.884G>A
ENST00000643619.1:c.*846G>A ENSP00000494378.1:n.*846G>A
ENST00000643752.1:c.*589G>A ENSP00000495000.1:n.*589G>A
ENST00000644088.1:c.*584G>A ENSP00000494066.1:n.*584G>A
ENST00000644591.1:c.*589G>A ENSP00000496664.1:n.*589G>A
ENST00000644895.1:c.*99+6200G>A ENSP00000493872.1:n.*99+6200G>A
ENST00000645345.1:c.*835G>A ENSP00000495859.1:n.*835G>A
ENST00000647524.1:c.*846G>A ENSP00000495077.1:n.*846G>A
ENST00000373189.5:c.1263G>A ENSP00000362285.5:p.Leu421=
ENST00000469204.1:n.760G>A
NM_001174098.1:c.*492G>A NP_001167569.1:n.*492G>A
NM_018344.5:c.1263G>A NP_060814.4:p.Leu421=
NR_033413.1:n.1237G>A
NR_033414.1:n.1010G>A
XM_006717910.2:c.1029G>A XP_006717973.1:p.Leu343=
NM_001363518.1:c.1029G>A NP_001350447.1:p.Leu343=
XM_017016377.2:c.825G>A XP_016871866.1:p.Leu275=
XM_017016378.2:c.645G>A XP_016871867.1:p.Leu215=
NM_018344.6:c.1263G>A MANE Select NP_060814.4:p.Leu421=
NM_001174098.2:c.*492G>A NP_001167569.1:n.*492G>A
NM_001363518.2:c.1029G>A NP_001350447.1:p.Leu343=
NR_033413.2:n.1231G>A
NR_033414.2:n.1004G>A