Canonical Allele Identifier: CA377114750

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121853G>A (hg19) ; chr10:g.71362096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362096G>A , CM000672.2:g.71362096G>A	GRCh38
NC_000010.10:g.73121853G>A , CM000672.1:g.73121853G>A	GRCh37
NC_000010.9:g.72791859G>A	NCBI36
NG_017066.1:g.47844G>A
NG_017066.2:g.47838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2392G>A
ENST00000373189.6:c.916G>A MANE Select	ENSP00000362285.5:p.Ala306Thr
ENST00000479577.2:c.682G>A	ENSP00000493995.1:p.Ala228Thr
ENST00000642198.1:c.*488G>A	ENSP00000494827.1:n.*488G>A
ENST00000642772.1:c.*94+5853G>A	ENSP00000495041.1:n.*94+5853G>A
ENST00000643042.1:c.537G>A	ENSP00000496674.1:n.537G>A
ENST00000643619.1:c.*499G>A	ENSP00000494378.1:n.*499G>A
ENST00000643752.1:c.*242G>A	ENSP00000495000.1:n.*242G>A
ENST00000644088.1:c.*237G>A	ENSP00000494066.1:n.*237G>A
ENST00000644591.1:c.*242G>A	ENSP00000496664.1:n.*242G>A
ENST00000644895.1:c.*99+5853G>A	ENSP00000493872.1:n.*99+5853G>A
ENST00000645345.1:c.*488G>A	ENSP00000495859.1:n.*488G>A
ENST00000647524.1:c.*499G>A	ENSP00000495077.1:n.*499G>A
ENST00000373189.5:c.916G>A	ENSP00000362285.5:p.Ala306Thr
ENST00000469204.1:n.413G>A
NM_001174098.1:c.*145G>A	NP_001167569.1:n.*145G>A
NM_018344.5:c.916G>A	NP_060814.4:p.Ala306Thr
NR_033413.1:n.890G>A
NR_033414.1:n.663G>A
XM_006717910.2:c.682G>A	XP_006717973.1:p.Ala228Thr
NM_001363518.1:c.682G>A	NP_001350447.1:p.Ala228Thr
XM_017016377.2:c.478G>A	XP_016871866.1:p.Ala160Thr
XM_017016378.2:c.298G>A	XP_016871867.1:p.Ala100Thr
NM_018344.6:c.916G>A MANE Select	NP_060814.4:p.Ala306Thr
NM_001174098.2:c.*145G>A	NP_001167569.1:n.*145G>A
NM_001363518.2:c.682G>A	NP_001350447.1:p.Ala228Thr
NR_033413.2:n.884G>A
NR_033414.2:n.657G>A