Canonical Allele Identifier: CA377115219

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1358429
• ClinVar RCV Id: RCV001864082
• dbSNP Id: rs2131851495
• MyVariant Identifiers: chr10:g.73121907C>T (hg19) ; chr10:g.71362150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362150C>T , CM000672.2:g.71362150C>T	GRCh38
NC_000010.10:g.73121907C>T , CM000672.1:g.73121907C>T	GRCh37
NC_000010.9:g.72791913C>T	NCBI36
NG_017066.1:g.47898C>T
NG_017066.2:g.47892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2446C>T
ENST00000373189.6:c.970C>T MANE Select	ENSP00000362285.5:p.Pro324Ser
ENST00000479577.2:c.736C>T	ENSP00000493995.1:p.Pro246Ser
ENST00000642198.1:c.*542C>T	ENSP00000494827.1:n.*542C>T
ENST00000642772.1:c.*94+5907C>T	ENSP00000495041.1:n.*94+5907C>T
ENST00000643042.1:c.591C>T	ENSP00000496674.1:n.591C>T
ENST00000643619.1:c.*553C>T	ENSP00000494378.1:n.*553C>T
ENST00000643752.1:c.*296C>T	ENSP00000495000.1:n.*296C>T
ENST00000644088.1:c.*291C>T	ENSP00000494066.1:n.*291C>T
ENST00000644591.1:c.*296C>T	ENSP00000496664.1:n.*296C>T
ENST00000644895.1:c.*99+5907C>T	ENSP00000493872.1:n.*99+5907C>T
ENST00000645345.1:c.*542C>T	ENSP00000495859.1:n.*542C>T
ENST00000647524.1:c.*553C>T	ENSP00000495077.1:n.*553C>T
ENST00000373189.5:c.970C>T	ENSP00000362285.5:p.Pro324Ser
ENST00000469204.1:n.467C>T
NM_001174098.1:c.*199C>T	NP_001167569.1:n.*199C>T
NM_018344.5:c.970C>T	NP_060814.4:p.Pro324Ser
NR_033413.1:n.944C>T
NR_033414.1:n.717C>T
XM_006717910.2:c.736C>T	XP_006717973.1:p.Pro246Ser
NM_001363518.1:c.736C>T	NP_001350447.1:p.Pro246Ser
XM_017016377.2:c.532C>T	XP_016871866.1:p.Pro178Ser
XM_017016378.2:c.352C>T	XP_016871867.1:p.Pro118Ser
NM_018344.6:c.970C>T MANE Select	NP_060814.4:p.Pro324Ser
NM_001174098.2:c.*199C>T	NP_001167569.1:n.*199C>T
NM_001363518.2:c.736C>T	NP_001350447.1:p.Pro246Ser
NR_033413.2:n.938C>T
NR_033414.2:n.711C>T