Canonical Allele Identifier: CA377113981

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121757G>C (hg19) ; chr10:g.71362000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362000G>C , CM000672.2:g.71362000G>C	GRCh38
NC_000010.10:g.73121757G>C , CM000672.1:g.73121757G>C	GRCh37
NC_000010.9:g.72791763G>C	NCBI36
NG_017066.1:g.47748G>C
NG_017066.2:g.47742G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2296G>C
ENST00000373189.6:c.820G>C MANE Select	ENSP00000362285.5:p.Glu274Gln
ENST00000479577.2:c.586G>C	ENSP00000493995.1:p.Glu196Gln
ENST00000642198.1:c.*392G>C	ENSP00000494827.1:n.*392G>C
ENST00000642772.1:c.*94+5757G>C	ENSP00000495041.1:n.*94+5757G>C
ENST00000643042.1:c.441G>C	ENSP00000496674.1:n.441G>C
ENST00000643619.1:c.*403G>C	ENSP00000494378.1:n.*403G>C
ENST00000643752.1:c.*146G>C	ENSP00000495000.1:n.*146G>C
ENST00000644088.1:c.*141G>C	ENSP00000494066.1:n.*141G>C
ENST00000644591.1:c.*146G>C	ENSP00000496664.1:n.*146G>C
ENST00000644895.1:c.*99+5757G>C	ENSP00000493872.1:n.*99+5757G>C
ENST00000645345.1:c.*392G>C	ENSP00000495859.1:n.*392G>C
ENST00000647524.1:c.*403G>C	ENSP00000495077.1:n.*403G>C
ENST00000373189.5:c.820G>C	ENSP00000362285.5:p.Glu274Gln
ENST00000469204.1:n.317G>C
NM_001174098.1:c.*49G>C	NP_001167569.1:n.*49G>C
NM_018344.5:c.820G>C	NP_060814.4:p.Glu274Gln
NR_033413.1:n.794G>C
NR_033414.1:n.567G>C
XM_006717910.2:c.586G>C	XP_006717973.1:p.Glu196Gln
NM_001363518.1:c.586G>C	NP_001350447.1:p.Glu196Gln
XM_017016377.2:c.382G>C	XP_016871866.1:p.Glu128Gln
XM_017016378.2:c.202G>C	XP_016871867.1:p.Glu68Gln
NM_018344.6:c.820G>C MANE Select	NP_060814.4:p.Glu274Gln
NM_001174098.2:c.*49G>C	NP_001167569.1:n.*49G>C
NM_001363518.2:c.586G>C	NP_001350447.1:p.Glu196Gln
NR_033413.2:n.788G>C
NR_033414.2:n.561G>C