Canonical Allele Identifier: CA377114911

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121866T>G (hg19) ; chr10:g.71362109T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362109T>G , CM000672.2:g.71362109T>G	GRCh38
NC_000010.10:g.73121866T>G , CM000672.1:g.73121866T>G	GRCh37
NC_000010.9:g.72791872T>G	NCBI36
NG_017066.1:g.47857T>G
NG_017066.2:g.47851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2405T>G
ENST00000373189.6:c.929T>G MANE Select	ENSP00000362285.5:p.Phe310Cys
ENST00000479577.2:c.695T>G	ENSP00000493995.1:p.Phe232Cys
ENST00000642198.1:c.*501T>G	ENSP00000494827.1:n.*501T>G
ENST00000642772.1:c.*94+5866T>G	ENSP00000495041.1:n.*94+5866T>G
ENST00000643042.1:c.550T>G	ENSP00000496674.1:n.550T>G
ENST00000643619.1:c.*512T>G	ENSP00000494378.1:n.*512T>G
ENST00000643752.1:c.*255T>G	ENSP00000495000.1:n.*255T>G
ENST00000644088.1:c.*250T>G	ENSP00000494066.1:n.*250T>G
ENST00000644591.1:c.*255T>G	ENSP00000496664.1:n.*255T>G
ENST00000644895.1:c.*99+5866T>G	ENSP00000493872.1:n.*99+5866T>G
ENST00000645345.1:c.*501T>G	ENSP00000495859.1:n.*501T>G
ENST00000647524.1:c.*512T>G	ENSP00000495077.1:n.*512T>G
ENST00000373189.5:c.929T>G	ENSP00000362285.5:p.Phe310Cys
ENST00000469204.1:n.426T>G
NM_001174098.1:c.*158T>G	NP_001167569.1:n.*158T>G
NM_018344.5:c.929T>G	NP_060814.4:p.Phe310Cys
NR_033413.1:n.903T>G
NR_033414.1:n.676T>G
XM_006717910.2:c.695T>G	XP_006717973.1:p.Phe232Cys
NM_001363518.1:c.695T>G	NP_001350447.1:p.Phe232Cys
XM_017016377.2:c.491T>G	XP_016871866.1:p.Phe164Cys
XM_017016378.2:c.311T>G	XP_016871867.1:p.Phe104Cys
NM_018344.6:c.929T>G MANE Select	NP_060814.4:p.Phe310Cys
NM_001174098.2:c.*158T>G	NP_001167569.1:n.*158T>G
NM_001363518.2:c.695T>G	NP_001350447.1:p.Phe232Cys
NR_033413.2:n.897T>G
NR_033414.2:n.670T>G