Canonical Allele Identifier: CA5543113

Gene: SLC29A3

Linked Data

• dbSNP Id: rs759514207
• ExAC: 10:73121953 C / T
• gnomAD v2: 10-73121953-C-T
• gnomAD v4: 10-71362196-C-T
• MyVariant Identifiers: chr10:g.73121953C>T (hg19) ; chr10:g.71362196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362196C>T , CM000672.2:g.71362196C>T	GRCh38
NC_000010.10:g.73121953C>T , CM000672.1:g.73121953C>T	GRCh37
NC_000010.9:g.72791959C>T	NCBI36
NG_017066.1:g.47944C>T
NG_017066.2:g.47938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2492C>T
ENST00000373189.6:c.1016C>T MANE Select	ENSP00000362285.5:p.Ser339Leu
ENST00000479577.2:c.782C>T	ENSP00000493995.1:p.Ser261Leu
ENST00000642198.1:c.*588C>T	ENSP00000494827.1:n.*588C>T
ENST00000642772.1:c.*94+5953C>T	ENSP00000495041.1:n.*94+5953C>T
ENST00000643042.1:c.637C>T	ENSP00000496674.1:n.637C>T
ENST00000643619.1:c.*599C>T	ENSP00000494378.1:n.*599C>T
ENST00000643752.1:c.*342C>T	ENSP00000495000.1:n.*342C>T
ENST00000644088.1:c.*337C>T	ENSP00000494066.1:n.*337C>T
ENST00000644591.1:c.*342C>T	ENSP00000496664.1:n.*342C>T
ENST00000644895.1:c.*99+5953C>T	ENSP00000493872.1:n.*99+5953C>T
ENST00000645345.1:c.*588C>T	ENSP00000495859.1:n.*588C>T
ENST00000647524.1:c.*599C>T	ENSP00000495077.1:n.*599C>T
ENST00000373189.5:c.1016C>T	ENSP00000362285.5:p.Ser339Leu
ENST00000469204.1:n.513C>T
NM_001174098.1:c.*245C>T	NP_001167569.1:n.*245C>T
NM_018344.5:c.1016C>T	NP_060814.4:p.Ser339Leu
NR_033413.1:n.990C>T
NR_033414.1:n.763C>T
XM_006717910.2:c.782C>T	XP_006717973.1:p.Ser261Leu
NM_001363518.1:c.782C>T	NP_001350447.1:p.Ser261Leu
XM_017016377.2:c.578C>T	XP_016871866.1:p.Ser193Leu
XM_017016378.2:c.398C>T	XP_016871867.1:p.Ser133Leu
NM_018344.6:c.1016C>T MANE Select	NP_060814.4:p.Ser339Leu
NM_001174098.2:c.*245C>T	NP_001167569.1:n.*245C>T
NM_001363518.2:c.782C>T	NP_001350447.1:p.Ser261Leu
NR_033413.2:n.984C>T
NR_033414.2:n.757C>T