Canonical Allele Identifier: CA377114547

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121833G>C (hg19) ; chr10:g.71362076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362076G>C , CM000672.2:g.71362076G>C	GRCh38
NC_000010.10:g.73121833G>C , CM000672.1:g.73121833G>C	GRCh37
NC_000010.9:g.72791839G>C	NCBI36
NG_017066.1:g.47824G>C
NG_017066.2:g.47818G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2372G>C
ENST00000373189.6:c.896G>C MANE Select	ENSP00000362285.5:p.Arg299Pro
ENST00000479577.2:c.662G>C	ENSP00000493995.1:p.Arg221Pro
ENST00000642198.1:c.*468G>C	ENSP00000494827.1:n.*468G>C
ENST00000642772.1:c.*94+5833G>C	ENSP00000495041.1:n.*94+5833G>C
ENST00000643042.1:c.517G>C	ENSP00000496674.1:n.517G>C
ENST00000643619.1:c.*479G>C	ENSP00000494378.1:n.*479G>C
ENST00000643752.1:c.*222G>C	ENSP00000495000.1:n.*222G>C
ENST00000644088.1:c.*217G>C	ENSP00000494066.1:n.*217G>C
ENST00000644591.1:c.*222G>C	ENSP00000496664.1:n.*222G>C
ENST00000644895.1:c.*99+5833G>C	ENSP00000493872.1:n.*99+5833G>C
ENST00000645345.1:c.*468G>C	ENSP00000495859.1:n.*468G>C
ENST00000647524.1:c.*479G>C	ENSP00000495077.1:n.*479G>C
ENST00000373189.5:c.896G>C	ENSP00000362285.5:p.Arg299Pro
ENST00000469204.1:n.393G>C
NM_001174098.1:c.*125G>C	NP_001167569.1:n.*125G>C
NM_018344.5:c.896G>C	NP_060814.4:p.Arg299Pro
NR_033413.1:n.870G>C
NR_033414.1:n.643G>C
XM_006717910.2:c.662G>C	XP_006717973.1:p.Arg221Pro
NM_001363518.1:c.662G>C	NP_001350447.1:p.Arg221Pro
XM_017016377.2:c.458G>C	XP_016871866.1:p.Arg153Pro
XM_017016378.2:c.278G>C	XP_016871867.1:p.Arg93Pro
NM_018344.6:c.896G>C MANE Select	NP_060814.4:p.Arg299Pro
NM_001174098.2:c.*125G>C	NP_001167569.1:n.*125G>C
NM_001363518.2:c.662G>C	NP_001350447.1:p.Arg221Pro
NR_033413.2:n.864G>C
NR_033414.2:n.637G>C