Canonical Allele Identifier: CA377114002

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121760G>C (hg19) ; chr10:g.71362003G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362003G>C , CM000672.2:g.71362003G>C	GRCh38
NC_000010.10:g.73121760G>C , CM000672.1:g.73121760G>C	GRCh37
NC_000010.9:g.72791766G>C	NCBI36
NG_017066.1:g.47751G>C
NG_017066.2:g.47745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2299G>C
ENST00000373189.6:c.823G>C MANE Select	ENSP00000362285.5:p.Glu275Gln
ENST00000479577.2:c.589G>C	ENSP00000493995.1:p.Glu197Gln
ENST00000642198.1:c.*395G>C	ENSP00000494827.1:n.*395G>C
ENST00000642772.1:c.*94+5760G>C	ENSP00000495041.1:n.*94+5760G>C
ENST00000643042.1:c.444G>C	ENSP00000496674.1:n.444G>C
ENST00000643619.1:c.*406G>C	ENSP00000494378.1:n.*406G>C
ENST00000643752.1:c.*149G>C	ENSP00000495000.1:n.*149G>C
ENST00000644088.1:c.*144G>C	ENSP00000494066.1:n.*144G>C
ENST00000644591.1:c.*149G>C	ENSP00000496664.1:n.*149G>C
ENST00000644895.1:c.*99+5760G>C	ENSP00000493872.1:n.*99+5760G>C
ENST00000645345.1:c.*395G>C	ENSP00000495859.1:n.*395G>C
ENST00000647524.1:c.*406G>C	ENSP00000495077.1:n.*406G>C
ENST00000373189.5:c.823G>C	ENSP00000362285.5:p.Glu275Gln
ENST00000469204.1:n.320G>C
NM_001174098.1:c.*52G>C	NP_001167569.1:n.*52G>C
NM_018344.5:c.823G>C	NP_060814.4:p.Glu275Gln
NR_033413.1:n.797G>C
NR_033414.1:n.570G>C
XM_006717910.2:c.589G>C	XP_006717973.1:p.Glu197Gln
NM_001363518.1:c.589G>C	NP_001350447.1:p.Glu197Gln
XM_017016377.2:c.385G>C	XP_016871866.1:p.Glu129Gln
XM_017016378.2:c.205G>C	XP_016871867.1:p.Glu69Gln
NM_018344.6:c.823G>C MANE Select	NP_060814.4:p.Glu275Gln
NM_001174098.2:c.*52G>C	NP_001167569.1:n.*52G>C
NM_001363518.2:c.589G>C	NP_001350447.1:p.Glu197Gln
NR_033413.2:n.791G>C
NR_033414.2:n.564G>C