Canonical Allele Identifier: CA377117169

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122212C>A (hg19) ; chr10:g.71362455C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362455C>A , CM000672.2:g.71362455C>A	GRCh38
NC_000010.10:g.73122212C>A , CM000672.1:g.73122212C>A	GRCh37
NC_000010.9:g.72792218C>A	NCBI36
NG_017066.1:g.48203C>A
NG_017066.2:g.48197C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2751C>A
ENST00000373189.6:c.1275C>A MANE Select	ENSP00000362285.5:p.Ser425Arg
ENST00000479577.2:c.1041C>A	ENSP00000493995.1:p.Ser347Arg
ENST00000642198.1:c.*847C>A	ENSP00000494827.1:n.*847C>A
ENST00000642772.1:c.*94+6212C>A	ENSP00000495041.1:n.*94+6212C>A
ENST00000643042.1:c.896C>A	ENSP00000496674.1:n.896C>A
ENST00000643619.1:c.*858C>A	ENSP00000494378.1:n.*858C>A
ENST00000643752.1:c.*601C>A	ENSP00000495000.1:n.*601C>A
ENST00000644088.1:c.*596C>A	ENSP00000494066.1:n.*596C>A
ENST00000644591.1:c.*601C>A	ENSP00000496664.1:n.*601C>A
ENST00000644895.1:c.*99+6212C>A	ENSP00000493872.1:n.*99+6212C>A
ENST00000645345.1:c.*847C>A	ENSP00000495859.1:n.*847C>A
ENST00000647524.1:c.*858C>A	ENSP00000495077.1:n.*858C>A
ENST00000373189.5:c.1275C>A	ENSP00000362285.5:p.Ser425Arg
ENST00000469204.1:n.772C>A
NM_001174098.1:c.*504C>A	NP_001167569.1:n.*504C>A
NM_018344.5:c.1275C>A	NP_060814.4:p.Ser425Arg
NR_033413.1:n.1249C>A
NR_033414.1:n.1022C>A
XM_006717910.2:c.1041C>A	XP_006717973.1:p.Ser347Arg
NM_001363518.1:c.1041C>A	NP_001350447.1:p.Ser347Arg
XM_017016377.2:c.837C>A	XP_016871866.1:p.Ser279Arg
XM_017016378.2:c.657C>A	XP_016871867.1:p.Ser219Arg
NM_018344.6:c.1275C>A MANE Select	NP_060814.4:p.Ser425Arg
NM_001174098.2:c.*504C>A	NP_001167569.1:n.*504C>A
NM_001363518.2:c.1041C>A	NP_001350447.1:p.Ser347Arg
NR_033413.2:n.1243C>A
NR_033414.2:n.1016C>A