Canonical Allele Identifier: CA377117166

Gene: SLC29A3

Linked Data

• COSMIC: COSM5694974
• MyVariant Identifiers: chr10:g.73122211G>T (hg19) ; chr10:g.71362454G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362454G>T , CM000672.2:g.71362454G>T	GRCh38
NC_000010.10:g.73122211G>T , CM000672.1:g.73122211G>T	GRCh37
NC_000010.9:g.72792217G>T	NCBI36
NG_017066.1:g.48202G>T
NG_017066.2:g.48196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2750G>T
ENST00000373189.6:c.1274G>T MANE Select	ENSP00000362285.5:p.Ser425Ile
ENST00000479577.2:c.1040G>T	ENSP00000493995.1:p.Ser347Ile
ENST00000642198.1:c.*846G>T	ENSP00000494827.1:n.*846G>T
ENST00000642772.1:c.*94+6211G>T	ENSP00000495041.1:n.*94+6211G>T
ENST00000643042.1:c.895G>T	ENSP00000496674.1:n.895G>T
ENST00000643619.1:c.*857G>T	ENSP00000494378.1:n.*857G>T
ENST00000643752.1:c.*600G>T	ENSP00000495000.1:n.*600G>T
ENST00000644088.1:c.*595G>T	ENSP00000494066.1:n.*595G>T
ENST00000644591.1:c.*600G>T	ENSP00000496664.1:n.*600G>T
ENST00000644895.1:c.*99+6211G>T	ENSP00000493872.1:n.*99+6211G>T
ENST00000645345.1:c.*846G>T	ENSP00000495859.1:n.*846G>T
ENST00000647524.1:c.*857G>T	ENSP00000495077.1:n.*857G>T
ENST00000373189.5:c.1274G>T	ENSP00000362285.5:p.Ser425Ile
ENST00000469204.1:n.771G>T
NM_001174098.1:c.*503G>T	NP_001167569.1:n.*503G>T
NM_018344.5:c.1274G>T	NP_060814.4:p.Ser425Ile
NR_033413.1:n.1248G>T
NR_033414.1:n.1021G>T
XM_006717910.2:c.1040G>T	XP_006717973.1:p.Ser347Ile
NM_001363518.1:c.1040G>T	NP_001350447.1:p.Ser347Ile
XM_017016377.2:c.836G>T	XP_016871866.1:p.Ser279Ile
XM_017016378.2:c.656G>T	XP_016871867.1:p.Ser219Ile
NM_018344.6:c.1274G>T MANE Select	NP_060814.4:p.Ser425Ile
NM_001174098.2:c.*503G>T	NP_001167569.1:n.*503G>T
NM_001363518.2:c.1040G>T	NP_001350447.1:p.Ser347Ile
NR_033413.2:n.1242G>T
NR_033414.2:n.1015G>T