Canonical Allele Identifier: CA377115644

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121958T>C (hg19) ; chr10:g.71362201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362201T>C , CM000672.2:g.71362201T>C	GRCh38
NC_000010.10:g.73121958T>C , CM000672.1:g.73121958T>C	GRCh37
NC_000010.9:g.72791964T>C	NCBI36
NG_017066.1:g.47949T>C
NG_017066.2:g.47943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2497T>C
ENST00000373189.6:c.1021T>C MANE Select	ENSP00000362285.5:p.Trp341Arg
ENST00000479577.2:c.787T>C	ENSP00000493995.1:p.Trp263Arg
ENST00000642198.1:c.*593T>C	ENSP00000494827.1:n.*593T>C
ENST00000642772.1:c.*94+5958T>C	ENSP00000495041.1:n.*94+5958T>C
ENST00000643042.1:c.642T>C	ENSP00000496674.1:n.642T>C
ENST00000643619.1:c.*604T>C	ENSP00000494378.1:n.*604T>C
ENST00000643752.1:c.*347T>C	ENSP00000495000.1:n.*347T>C
ENST00000644088.1:c.*342T>C	ENSP00000494066.1:n.*342T>C
ENST00000644591.1:c.*347T>C	ENSP00000496664.1:n.*347T>C
ENST00000644895.1:c.*99+5958T>C	ENSP00000493872.1:n.*99+5958T>C
ENST00000645345.1:c.*593T>C	ENSP00000495859.1:n.*593T>C
ENST00000647524.1:c.*604T>C	ENSP00000495077.1:n.*604T>C
ENST00000373189.5:c.1021T>C	ENSP00000362285.5:p.Trp341Arg
ENST00000469204.1:n.518T>C
NM_001174098.1:c.*250T>C	NP_001167569.1:n.*250T>C
NM_018344.5:c.1021T>C	NP_060814.4:p.Trp341Arg
NR_033413.1:n.995T>C
NR_033414.1:n.768T>C
XM_006717910.2:c.787T>C	XP_006717973.1:p.Trp263Arg
NM_001363518.1:c.787T>C	NP_001350447.1:p.Trp263Arg
XM_017016377.2:c.583T>C	XP_016871866.1:p.Trp195Arg
XM_017016378.2:c.403T>C	XP_016871867.1:p.Trp135Arg
NM_018344.6:c.1021T>C MANE Select	NP_060814.4:p.Trp341Arg
NM_001174098.2:c.*250T>C	NP_001167569.1:n.*250T>C
NM_001363518.2:c.787T>C	NP_001350447.1:p.Trp263Arg
NR_033413.2:n.989T>C
NR_033414.2:n.762T>C