Canonical Allele Identifier: CA377114015

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121762G>C (hg19) ; chr10:g.71362005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362005G>C , CM000672.2:g.71362005G>C	GRCh38
NC_000010.10:g.73121762G>C , CM000672.1:g.73121762G>C	GRCh37
NC_000010.9:g.72791768G>C	NCBI36
NG_017066.1:g.47753G>C
NG_017066.2:g.47747G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2301G>C
ENST00000373189.6:c.825G>C MANE Select	ENSP00000362285.5:p.Glu275Asp
ENST00000479577.2:c.591G>C	ENSP00000493995.1:p.Glu197Asp
ENST00000642198.1:c.*397G>C	ENSP00000494827.1:n.*397G>C
ENST00000642772.1:c.*94+5762G>C	ENSP00000495041.1:n.*94+5762G>C
ENST00000643042.1:c.446G>C	ENSP00000496674.1:n.446G>C
ENST00000643619.1:c.*408G>C	ENSP00000494378.1:n.*408G>C
ENST00000643752.1:c.*151G>C	ENSP00000495000.1:n.*151G>C
ENST00000644088.1:c.*146G>C	ENSP00000494066.1:n.*146G>C
ENST00000644591.1:c.*151G>C	ENSP00000496664.1:n.*151G>C
ENST00000644895.1:c.*99+5762G>C	ENSP00000493872.1:n.*99+5762G>C
ENST00000645345.1:c.*397G>C	ENSP00000495859.1:n.*397G>C
ENST00000647524.1:c.*408G>C	ENSP00000495077.1:n.*408G>C
ENST00000373189.5:c.825G>C	ENSP00000362285.5:p.Glu275Asp
ENST00000469204.1:n.322G>C
NM_001174098.1:c.*54G>C	NP_001167569.1:n.*54G>C
NM_018344.5:c.825G>C	NP_060814.4:p.Glu275Asp
NR_033413.1:n.799G>C
NR_033414.1:n.572G>C
XM_006717910.2:c.591G>C	XP_006717973.1:p.Glu197Asp
NM_001363518.1:c.591G>C	NP_001350447.1:p.Glu197Asp
XM_017016377.2:c.387G>C	XP_016871866.1:p.Glu129Asp
XM_017016378.2:c.207G>C	XP_016871867.1:p.Glu69Asp
NM_018344.6:c.825G>C MANE Select	NP_060814.4:p.Glu275Asp
NM_001174098.2:c.*54G>C	NP_001167569.1:n.*54G>C
NM_001363518.2:c.591G>C	NP_001350447.1:p.Glu197Asp
NR_033413.2:n.793G>C
NR_033414.2:n.566G>C