Canonical Allele Identifier: CA470281592
Gene: SLC29A3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.73122242C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71362485C>A , CM000672.2:g.71362485C>A GRCh38
NC_000010.10:g.73122242C>A , CM000672.1:g.73122242C>A GRCh37
NC_000010.9:g.72792248C>A NCBI36
NG_017066.1:g.48233C>A
NG_017066.2:g.48227C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697843.1:n.2781C>A
ENST00000373189.6:c.1305C>A MANE Select ENSP00000362285.5:p.Leu435=
ENST00000479577.2:c.1071C>A ENSP00000493995.1:p.Leu357=
ENST00000642198.1:c.*877C>A ENSP00000494827.1:n.*877C>A
ENST00000642772.1:c.*94+6242C>A ENSP00000495041.1:n.*94+6242C>A
ENST00000643042.1:c.926C>A ENSP00000496674.1:n.926C>A
ENST00000643619.1:c.*888C>A ENSP00000494378.1:n.*888C>A
ENST00000643752.1:c.*631C>A ENSP00000495000.1:n.*631C>A
ENST00000644088.1:c.*626C>A ENSP00000494066.1:n.*626C>A
ENST00000644591.1:c.*631C>A ENSP00000496664.1:n.*631C>A
ENST00000644895.1:c.*99+6242C>A ENSP00000493872.1:n.*99+6242C>A
ENST00000645345.1:c.*877C>A ENSP00000495859.1:n.*877C>A
ENST00000647524.1:c.*888C>A ENSP00000495077.1:n.*888C>A
ENST00000373189.5:c.1305C>A ENSP00000362285.5:p.Leu435=
ENST00000469204.1:n.802C>A
NM_001174098.1:c.*534C>A NP_001167569.1:n.*534C>A
NM_018344.5:c.1305C>A NP_060814.4:p.Leu435=
NR_033413.1:n.1279C>A
NR_033414.1:n.1052C>A
XM_006717910.2:c.1071C>A XP_006717973.1:p.Leu357=
NM_001363518.1:c.1071C>A NP_001350447.1:p.Leu357=
XM_017016377.2:c.867C>A XP_016871866.1:p.Leu289=
XM_017016378.2:c.687C>A XP_016871867.1:p.Leu229=
NM_018344.6:c.1305C>A MANE Select NP_060814.4:p.Leu435=
NM_001174098.2:c.*534C>A NP_001167569.1:n.*534C>A
NM_001363518.2:c.1071C>A NP_001350447.1:p.Leu357=
NR_033413.2:n.1273C>A
NR_033414.2:n.1046C>A