Canonical Allele Identifier: CA377116901

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122073T>C (hg19) ; chr10:g.71362316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362316T>C , CM000672.2:g.71362316T>C	GRCh38
NC_000010.10:g.73122073T>C , CM000672.1:g.73122073T>C	GRCh37
NC_000010.9:g.72792079T>C	NCBI36
NG_017066.1:g.48064T>C
NG_017066.2:g.48058T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2612T>C
ENST00000373189.6:c.1136T>C MANE Select	ENSP00000362285.5:p.Leu379Pro
ENST00000479577.2:c.902T>C	ENSP00000493995.1:p.Leu301Pro
ENST00000642198.1:c.*708T>C	ENSP00000494827.1:n.*708T>C
ENST00000642772.1:c.*94+6073T>C	ENSP00000495041.1:n.*94+6073T>C
ENST00000643042.1:c.757T>C	ENSP00000496674.1:n.757T>C
ENST00000643619.1:c.*719T>C	ENSP00000494378.1:n.*719T>C
ENST00000643752.1:c.*462T>C	ENSP00000495000.1:n.*462T>C
ENST00000644088.1:c.*457T>C	ENSP00000494066.1:n.*457T>C
ENST00000644591.1:c.*462T>C	ENSP00000496664.1:n.*462T>C
ENST00000644895.1:c.*99+6073T>C	ENSP00000493872.1:n.*99+6073T>C
ENST00000645345.1:c.*708T>C	ENSP00000495859.1:n.*708T>C
ENST00000647524.1:c.*719T>C	ENSP00000495077.1:n.*719T>C
ENST00000373189.5:c.1136T>C	ENSP00000362285.5:p.Leu379Pro
ENST00000469204.1:n.633T>C
NM_001174098.1:c.*365T>C	NP_001167569.1:n.*365T>C
NM_018344.5:c.1136T>C	NP_060814.4:p.Leu379Pro
NR_033413.1:n.1110T>C
NR_033414.1:n.883T>C
XM_006717910.2:c.902T>C	XP_006717973.1:p.Leu301Pro
NM_001363518.1:c.902T>C	NP_001350447.1:p.Leu301Pro
XM_017016377.2:c.698T>C	XP_016871866.1:p.Leu233Pro
XM_017016378.2:c.518T>C	XP_016871867.1:p.Leu173Pro
NM_018344.6:c.1136T>C MANE Select	NP_060814.4:p.Leu379Pro
NM_001174098.2:c.*365T>C	NP_001167569.1:n.*365T>C
NM_001363518.2:c.902T>C	NP_001350447.1:p.Leu301Pro
NR_033413.2:n.1104T>C
NR_033414.2:n.877T>C