Canonical Allele Identifier: CA377114933

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121868T>C (hg19) ; chr10:g.71362111T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362111T>C , CM000672.2:g.71362111T>C	GRCh38
NC_000010.10:g.73121868T>C , CM000672.1:g.73121868T>C	GRCh37
NC_000010.9:g.72791874T>C	NCBI36
NG_017066.1:g.47859T>C
NG_017066.2:g.47853T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2407T>C
ENST00000373189.6:c.931T>C MANE Select	ENSP00000362285.5:p.Cys311Arg
ENST00000479577.2:c.697T>C	ENSP00000493995.1:p.Cys233Arg
ENST00000642198.1:c.*503T>C	ENSP00000494827.1:n.*503T>C
ENST00000642772.1:c.*94+5868T>C	ENSP00000495041.1:n.*94+5868T>C
ENST00000643042.1:c.552T>C	ENSP00000496674.1:n.552T>C
ENST00000643619.1:c.*514T>C	ENSP00000494378.1:n.*514T>C
ENST00000643752.1:c.*257T>C	ENSP00000495000.1:n.*257T>C
ENST00000644088.1:c.*252T>C	ENSP00000494066.1:n.*252T>C
ENST00000644591.1:c.*257T>C	ENSP00000496664.1:n.*257T>C
ENST00000644895.1:c.*99+5868T>C	ENSP00000493872.1:n.*99+5868T>C
ENST00000645345.1:c.*503T>C	ENSP00000495859.1:n.*503T>C
ENST00000647524.1:c.*514T>C	ENSP00000495077.1:n.*514T>C
ENST00000373189.5:c.931T>C	ENSP00000362285.5:p.Cys311Arg
ENST00000469204.1:n.428T>C
NM_001174098.1:c.*160T>C	NP_001167569.1:n.*160T>C
NM_018344.5:c.931T>C	NP_060814.4:p.Cys311Arg
NR_033413.1:n.905T>C
NR_033414.1:n.678T>C
XM_006717910.2:c.697T>C	XP_006717973.1:p.Cys233Arg
NM_001363518.1:c.697T>C	NP_001350447.1:p.Cys233Arg
XM_017016377.2:c.493T>C	XP_016871866.1:p.Cys165Arg
XM_017016378.2:c.313T>C	XP_016871867.1:p.Cys105Arg
NM_018344.6:c.931T>C MANE Select	NP_060814.4:p.Cys311Arg
NM_001174098.2:c.*160T>C	NP_001167569.1:n.*160T>C
NM_001363518.2:c.697T>C	NP_001350447.1:p.Cys233Arg
NR_033413.2:n.899T>C
NR_033414.2:n.672T>C