Canonical Allele Identifier: CA377115394

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121929A>C (hg19) ; chr10:g.71362172A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362172A>C , CM000672.2:g.71362172A>C	GRCh38
NC_000010.10:g.73121929A>C , CM000672.1:g.73121929A>C	GRCh37
NC_000010.9:g.72791935A>C	NCBI36
NG_017066.1:g.47920A>C
NG_017066.2:g.47914A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2468A>C
ENST00000373189.6:c.992A>C MANE Select	ENSP00000362285.5:p.Glu331Ala
ENST00000479577.2:c.758A>C	ENSP00000493995.1:p.Glu253Ala
ENST00000642198.1:c.*564A>C	ENSP00000494827.1:n.*564A>C
ENST00000642772.1:c.*94+5929A>C	ENSP00000495041.1:n.*94+5929A>C
ENST00000643042.1:c.613A>C	ENSP00000496674.1:n.613A>C
ENST00000643619.1:c.*575A>C	ENSP00000494378.1:n.*575A>C
ENST00000643752.1:c.*318A>C	ENSP00000495000.1:n.*318A>C
ENST00000644088.1:c.*313A>C	ENSP00000494066.1:n.*313A>C
ENST00000644591.1:c.*318A>C	ENSP00000496664.1:n.*318A>C
ENST00000644895.1:c.*99+5929A>C	ENSP00000493872.1:n.*99+5929A>C
ENST00000645345.1:c.*564A>C	ENSP00000495859.1:n.*564A>C
ENST00000647524.1:c.*575A>C	ENSP00000495077.1:n.*575A>C
ENST00000373189.5:c.992A>C	ENSP00000362285.5:p.Glu331Ala
ENST00000469204.1:n.489A>C
NM_001174098.1:c.*221A>C	NP_001167569.1:n.*221A>C
NM_018344.5:c.992A>C	NP_060814.4:p.Glu331Ala
NR_033413.1:n.966A>C
NR_033414.1:n.739A>C
XM_006717910.2:c.758A>C	XP_006717973.1:p.Glu253Ala
NM_001363518.1:c.758A>C	NP_001350447.1:p.Glu253Ala
XM_017016377.2:c.554A>C	XP_016871866.1:p.Glu185Ala
XM_017016378.2:c.374A>C	XP_016871867.1:p.Glu125Ala
NM_018344.6:c.992A>C MANE Select	NP_060814.4:p.Glu331Ala
NM_001174098.2:c.*221A>C	NP_001167569.1:n.*221A>C
NM_001363518.2:c.758A>C	NP_001350447.1:p.Glu253Ala
NR_033413.2:n.960A>C
NR_033414.2:n.733A>C