Canonical Allele Identifier: CA5542838

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71322913A>G , CM000672.2:g.71322913A>G	GRCh38
NC_000010.10:g.73082670A>G , CM000672.1:g.73082670A>G	GRCh37
NC_000010.9:g.72752676A>G	NCBI36
NG_017066.1:g.8661A>G
NG_017066.2:g.8655A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018344.6:c.159A>G MANE Select	NP_060814.4:p.Thr53=
ENST00000373189.6:c.159A>G MANE Select	ENSP00000362285.5:p.Thr53=
NM_001174098.1:c.159A>G	NP_001167569.1:p.Thr53=
NM_001174098.2:c.159A>G	NP_001167569.1:p.Thr53=
NM_001363518.1:c.-76A>G	NP_001350447.1:n.-76A>G
NM_001363518.2:c.-76A>G	NP_001350447.1:n.-76A>G
NM_018344.5:c.159A>G	NP_060814.4:p.Thr53=
NR_033413.1:n.216A>G
NR_033413.2:n.210A>G
NR_033414.1:n.216A>G
NR_033414.2:n.210A>G
ENST00000373189.5:c.159A>G	ENSP00000362285.5:p.Thr53=
ENST00000479577.1:n.608A>G
ENST00000479577.2:c.-76A>G	ENSP00000493995.1:n.-76A>G
ENST00000642198.1:c.-76A>G	ENSP00000494827.1:n.-76A>G
ENST00000642772.1:c.159A>G	ENSP00000495041.1:p.Thr53=
ENST00000643042.1:c.90A>G	ENSP00000496674.1:p.Thr30=
ENST00000643619.1:c.-76A>G	ENSP00000494378.1:n.-76A>G
ENST00000643752.1:c.159A>G	ENSP00000495000.1:p.Thr53=
ENST00000644088.1:c.159A>G	ENSP00000494066.1:p.Thr53=
ENST00000644591.1:c.159A>G	ENSP00000496664.1:p.Thr53=
ENST00000644895.1:c.159A>G	ENSP00000493872.1:p.Thr53=
ENST00000645345.1:c.159A>G	ENSP00000495859.1:p.Thr53=
ENST00000647524.1:c.159A>G	ENSP00000495077.1:p.Thr53=
ENST00000697843.1:n.605A>G
XM_006717910.2:c.-76A>G	XP_006717973.1:n.-76A>G
XM_017016377.2:c.-197A>G	XP_016871866.1:n.-197A>G
XM_017016378.2:c.-150A>G	XP_016871867.1:n.-150A>G