Canonical Allele Identifier: CA377117155

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362448-G-A
• MyVariant Identifiers: chr10:g.73122205G>A (hg19) ; chr10:g.71362448G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362448G>A , CM000672.2:g.71362448G>A	GRCh38
NC_000010.10:g.73122205G>A , CM000672.1:g.73122205G>A	GRCh37
NC_000010.9:g.72792211G>A	NCBI36
NG_017066.1:g.48196G>A
NG_017066.2:g.48190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2744G>A
ENST00000373189.6:c.1268G>A MANE Select	ENSP00000362285.5:p.Gly423Glu
ENST00000479577.2:c.1034G>A	ENSP00000493995.1:p.Gly345Glu
ENST00000642198.1:c.*840G>A	ENSP00000494827.1:n.*840G>A
ENST00000642772.1:c.*94+6205G>A	ENSP00000495041.1:n.*94+6205G>A
ENST00000643042.1:c.889G>A	ENSP00000496674.1:n.889G>A
ENST00000643619.1:c.*851G>A	ENSP00000494378.1:n.*851G>A
ENST00000643752.1:c.*594G>A	ENSP00000495000.1:n.*594G>A
ENST00000644088.1:c.*589G>A	ENSP00000494066.1:n.*589G>A
ENST00000644591.1:c.*594G>A	ENSP00000496664.1:n.*594G>A
ENST00000644895.1:c.*99+6205G>A	ENSP00000493872.1:n.*99+6205G>A
ENST00000645345.1:c.*840G>A	ENSP00000495859.1:n.*840G>A
ENST00000647524.1:c.*851G>A	ENSP00000495077.1:n.*851G>A
ENST00000373189.5:c.1268G>A	ENSP00000362285.5:p.Gly423Glu
ENST00000469204.1:n.765G>A
NM_001174098.1:c.*497G>A	NP_001167569.1:n.*497G>A
NM_018344.5:c.1268G>A	NP_060814.4:p.Gly423Glu
NR_033413.1:n.1242G>A
NR_033414.1:n.1015G>A
XM_006717910.2:c.1034G>A	XP_006717973.1:p.Gly345Glu
NM_001363518.1:c.1034G>A	NP_001350447.1:p.Gly345Glu
XM_017016377.2:c.830G>A	XP_016871866.1:p.Gly277Glu
XM_017016378.2:c.650G>A	XP_016871867.1:p.Gly217Glu
NM_018344.6:c.1268G>A MANE Select	NP_060814.4:p.Gly423Glu
NM_001174098.2:c.*497G>A	NP_001167569.1:n.*497G>A
NM_001363518.2:c.1034G>A	NP_001350447.1:p.Gly345Glu
NR_033413.2:n.1236G>A
NR_033414.2:n.1009G>A