Canonical Allele Identifier: CA377114726

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121849G>C (hg19) ; chr10:g.71362092G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362092G>C , CM000672.2:g.71362092G>C	GRCh38
NC_000010.10:g.73121849G>C , CM000672.1:g.73121849G>C	GRCh37
NC_000010.9:g.72791855G>C	NCBI36
NG_017066.1:g.47840G>C
NG_017066.2:g.47834G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2388G>C
ENST00000373189.6:c.912G>C MANE Select	ENSP00000362285.5:p.Lys304Asn
ENST00000479577.2:c.678G>C	ENSP00000493995.1:p.Lys226Asn
ENST00000642198.1:c.*484G>C	ENSP00000494827.1:n.*484G>C
ENST00000642772.1:c.*94+5849G>C	ENSP00000495041.1:n.*94+5849G>C
ENST00000643042.1:c.533G>C	ENSP00000496674.1:n.533G>C
ENST00000643619.1:c.*495G>C	ENSP00000494378.1:n.*495G>C
ENST00000643752.1:c.*238G>C	ENSP00000495000.1:n.*238G>C
ENST00000644088.1:c.*233G>C	ENSP00000494066.1:n.*233G>C
ENST00000644591.1:c.*238G>C	ENSP00000496664.1:n.*238G>C
ENST00000644895.1:c.*99+5849G>C	ENSP00000493872.1:n.*99+5849G>C
ENST00000645345.1:c.*484G>C	ENSP00000495859.1:n.*484G>C
ENST00000647524.1:c.*495G>C	ENSP00000495077.1:n.*495G>C
ENST00000373189.5:c.912G>C	ENSP00000362285.5:p.Lys304Asn
ENST00000469204.1:n.409G>C
NM_001174098.1:c.*141G>C	NP_001167569.1:n.*141G>C
NM_018344.5:c.912G>C	NP_060814.4:p.Lys304Asn
NR_033413.1:n.886G>C
NR_033414.1:n.659G>C
XM_006717910.2:c.678G>C	XP_006717973.1:p.Lys226Asn
NM_001363518.1:c.678G>C	NP_001350447.1:p.Lys226Asn
XM_017016377.2:c.474G>C	XP_016871866.1:p.Lys158Asn
XM_017016378.2:c.294G>C	XP_016871867.1:p.Lys98Asn
NM_018344.6:c.912G>C MANE Select	NP_060814.4:p.Lys304Asn
NM_001174098.2:c.*141G>C	NP_001167569.1:n.*141G>C
NM_001363518.2:c.678G>C	NP_001350447.1:p.Lys226Asn
NR_033413.2:n.880G>C
NR_033414.2:n.653G>C