Canonical Allele Identifier: CA377116966

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362348-A-G
• MyVariant Identifiers: chr10:g.73122105A>G (hg19) ; chr10:g.71362348A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362348A>G , CM000672.2:g.71362348A>G	GRCh38
NC_000010.10:g.73122105A>G , CM000672.1:g.73122105A>G	GRCh37
NC_000010.9:g.72792111A>G	NCBI36
NG_017066.1:g.48096A>G
NG_017066.2:g.48090A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2644A>G
ENST00000373189.6:c.1168A>G MANE Select	ENSP00000362285.5:p.Ile390Val
ENST00000479577.2:c.934A>G	ENSP00000493995.1:p.Ile312Val
ENST00000642198.1:c.*740A>G	ENSP00000494827.1:n.*740A>G
ENST00000642772.1:c.*94+6105A>G	ENSP00000495041.1:n.*94+6105A>G
ENST00000643042.1:c.789A>G	ENSP00000496674.1:n.789A>G
ENST00000643619.1:c.*751A>G	ENSP00000494378.1:n.*751A>G
ENST00000643752.1:c.*494A>G	ENSP00000495000.1:n.*494A>G
ENST00000644088.1:c.*489A>G	ENSP00000494066.1:n.*489A>G
ENST00000644591.1:c.*494A>G	ENSP00000496664.1:n.*494A>G
ENST00000644895.1:c.*99+6105A>G	ENSP00000493872.1:n.*99+6105A>G
ENST00000645345.1:c.*740A>G	ENSP00000495859.1:n.*740A>G
ENST00000647524.1:c.*751A>G	ENSP00000495077.1:n.*751A>G
ENST00000373189.5:c.1168A>G	ENSP00000362285.5:p.Ile390Val
ENST00000469204.1:n.665A>G
NM_001174098.1:c.*397A>G	NP_001167569.1:n.*397A>G
NM_018344.5:c.1168A>G	NP_060814.4:p.Ile390Val
NR_033413.1:n.1142A>G
NR_033414.1:n.915A>G
XM_006717910.2:c.934A>G	XP_006717973.1:p.Ile312Val
NM_001363518.1:c.934A>G	NP_001350447.1:p.Ile312Val
XM_017016377.2:c.730A>G	XP_016871866.1:p.Ile244Val
XM_017016378.2:c.550A>G	XP_016871867.1:p.Ile184Val
NM_018344.6:c.1168A>G MANE Select	NP_060814.4:p.Ile390Val
NM_001174098.2:c.*397A>G	NP_001167569.1:n.*397A>G
NM_001363518.2:c.934A>G	NP_001350447.1:p.Ile312Val
NR_033413.2:n.1136A>G
NR_033414.2:n.909A>G