Canonical Allele Identifier: CA377114757

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362096-G-T
• MyVariant Identifiers: chr10:g.73121853G>T (hg19) ; chr10:g.71362096G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2392G>T
ENST00000373189.6:c.916G>T MANE Select	ENSP00000362285.5:p.Ala306Ser
ENST00000479577.2:c.682G>T	ENSP00000493995.1:p.Ala228Ser
ENST00000642198.1:c.*488G>T	ENSP00000494827.1:n.*488G>T
ENST00000642772.1:c.*94+5853G>T	ENSP00000495041.1:n.*94+5853G>T
ENST00000643042.1:c.537G>T	ENSP00000496674.1:n.537G>T
ENST00000643619.1:c.*499G>T	ENSP00000494378.1:n.*499G>T
ENST00000643752.1:c.*242G>T	ENSP00000495000.1:n.*242G>T
ENST00000644088.1:c.*237G>T	ENSP00000494066.1:n.*237G>T
ENST00000644591.1:c.*242G>T	ENSP00000496664.1:n.*242G>T
ENST00000644895.1:c.*99+5853G>T	ENSP00000493872.1:n.*99+5853G>T
ENST00000645345.1:c.*488G>T	ENSP00000495859.1:n.*488G>T
ENST00000647524.1:c.*499G>T	ENSP00000495077.1:n.*499G>T
ENST00000373189.5:c.916G>T	ENSP00000362285.5:p.Ala306Ser
ENST00000469204.1:n.413G>T
NM_001174098.1:c.*145G>T	NP_001167569.1:n.*145G>T
NM_018344.5:c.916G>T	NP_060814.4:p.Ala306Ser
NR_033413.1:n.890G>T
NR_033414.1:n.663G>T
XM_006717910.2:c.682G>T	XP_006717973.1:p.Ala228Ser
NM_001363518.1:c.682G>T	NP_001350447.1:p.Ala228Ser
XM_017016377.2:c.478G>T	XP_016871866.1:p.Ala160Ser
XM_017016378.2:c.298G>T	XP_016871867.1:p.Ala100Ser
NM_018344.6:c.916G>T MANE Select	NP_060814.4:p.Ala306Ser
NM_001174098.2:c.*145G>T	NP_001167569.1:n.*145G>T
NM_001363518.2:c.682G>T	NP_001350447.1:p.Ala228Ser
NR_033413.2:n.884G>T
NR_033414.2:n.657G>T