Canonical Allele Identifier: CA377115003

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362118-C-T
• MyVariant Identifiers: chr10:g.73121875C>T (hg19) ; chr10:g.71362118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362118C>T , CM000672.2:g.71362118C>T	GRCh38
NC_000010.10:g.73121875C>T , CM000672.1:g.73121875C>T	GRCh37
NC_000010.9:g.72791881C>T	NCBI36
NG_017066.1:g.47866C>T
NG_017066.2:g.47860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2414C>T
ENST00000373189.6:c.938C>T MANE Select	ENSP00000362285.5:p.Thr313Ile
ENST00000479577.2:c.704C>T	ENSP00000493995.1:p.Thr235Ile
ENST00000642198.1:c.*510C>T	ENSP00000494827.1:n.*510C>T
ENST00000642772.1:c.*94+5875C>T	ENSP00000495041.1:n.*94+5875C>T
ENST00000643042.1:c.559C>T	ENSP00000496674.1:n.559C>T
ENST00000643619.1:c.*521C>T	ENSP00000494378.1:n.*521C>T
ENST00000643752.1:c.*264C>T	ENSP00000495000.1:n.*264C>T
ENST00000644088.1:c.*259C>T	ENSP00000494066.1:n.*259C>T
ENST00000644591.1:c.*264C>T	ENSP00000496664.1:n.*264C>T
ENST00000644895.1:c.*99+5875C>T	ENSP00000493872.1:n.*99+5875C>T
ENST00000645345.1:c.*510C>T	ENSP00000495859.1:n.*510C>T
ENST00000647524.1:c.*521C>T	ENSP00000495077.1:n.*521C>T
ENST00000373189.5:c.938C>T	ENSP00000362285.5:p.Thr313Ile
ENST00000469204.1:n.435C>T
NM_001174098.1:c.*167C>T	NP_001167569.1:n.*167C>T
NM_018344.5:c.938C>T	NP_060814.4:p.Thr313Ile
NR_033413.1:n.912C>T
NR_033414.1:n.685C>T
XM_006717910.2:c.704C>T	XP_006717973.1:p.Thr235Ile
NM_001363518.1:c.704C>T	NP_001350447.1:p.Thr235Ile
XM_017016377.2:c.500C>T	XP_016871866.1:p.Thr167Ile
XM_017016378.2:c.320C>T	XP_016871867.1:p.Thr107Ile
NM_018344.6:c.938C>T MANE Select	NP_060814.4:p.Thr313Ile
NM_001174098.2:c.*167C>T	NP_001167569.1:n.*167C>T
NM_001363518.2:c.704C>T	NP_001350447.1:p.Thr235Ile
NR_033413.2:n.906C>T
NR_033414.2:n.679C>T