Canonical Allele Identifier: CA377117250

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122250C>T (hg19) ; chr10:g.71362493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362493C>T , CM000672.2:g.71362493C>T	GRCh38
NC_000010.10:g.73122250C>T , CM000672.1:g.73122250C>T	GRCh37
NC_000010.9:g.72792256C>T	NCBI36
NG_017066.1:g.48241C>T
NG_017066.2:g.48235C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2789C>T
ENST00000373189.6:c.1313C>T MANE Select	ENSP00000362285.5:p.Pro438Leu
ENST00000479577.2:c.1079C>T	ENSP00000493995.1:p.Pro360Leu
ENST00000642198.1:c.*885C>T	ENSP00000494827.1:n.*885C>T
ENST00000642772.1:c.*94+6250C>T	ENSP00000495041.1:n.*94+6250C>T
ENST00000643042.1:c.934C>T	ENSP00000496674.1:n.934C>T
ENST00000643619.1:c.*896C>T	ENSP00000494378.1:n.*896C>T
ENST00000643752.1:c.*639C>T	ENSP00000495000.1:n.*639C>T
ENST00000644088.1:c.*634C>T	ENSP00000494066.1:n.*634C>T
ENST00000644591.1:c.*639C>T	ENSP00000496664.1:n.*639C>T
ENST00000644895.1:c.*99+6250C>T	ENSP00000493872.1:n.*99+6250C>T
ENST00000645345.1:c.*885C>T	ENSP00000495859.1:n.*885C>T
ENST00000647524.1:c.*896C>T	ENSP00000495077.1:n.*896C>T
ENST00000373189.5:c.1313C>T	ENSP00000362285.5:p.Pro438Leu
ENST00000469204.1:n.810C>T
NM_001174098.1:c.*542C>T	NP_001167569.1:n.*542C>T
NM_018344.5:c.1313C>T	NP_060814.4:p.Pro438Leu
NR_033413.1:n.1287C>T
NR_033414.1:n.1060C>T
XM_006717910.2:c.1079C>T	XP_006717973.1:p.Pro360Leu
NM_001363518.1:c.1079C>T	NP_001350447.1:p.Pro360Leu
XM_017016377.2:c.875C>T	XP_016871866.1:p.Pro292Leu
XM_017016378.2:c.695C>T	XP_016871867.1:p.Pro232Leu
NM_018344.6:c.1313C>T MANE Select	NP_060814.4:p.Pro438Leu
NM_001174098.2:c.*542C>T	NP_001167569.1:n.*542C>T
NM_001363518.2:c.1079C>T	NP_001350447.1:p.Pro360Leu
NR_033413.2:n.1281C>T
NR_033414.2:n.1054C>T