Canonical Allele Identifier: CA377115221

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121907C>G (hg19) ; chr10:g.71362150C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2446C>G
ENST00000373189.6:c.970C>G MANE Select	ENSP00000362285.5:p.Pro324Ala
ENST00000479577.2:c.736C>G	ENSP00000493995.1:p.Pro246Ala
ENST00000642198.1:c.*542C>G	ENSP00000494827.1:n.*542C>G
ENST00000642772.1:c.*94+5907C>G	ENSP00000495041.1:n.*94+5907C>G
ENST00000643042.1:c.591C>G	ENSP00000496674.1:n.591C>G
ENST00000643619.1:c.*553C>G	ENSP00000494378.1:n.*553C>G
ENST00000643752.1:c.*296C>G	ENSP00000495000.1:n.*296C>G
ENST00000644088.1:c.*291C>G	ENSP00000494066.1:n.*291C>G
ENST00000644591.1:c.*296C>G	ENSP00000496664.1:n.*296C>G
ENST00000644895.1:c.*99+5907C>G	ENSP00000493872.1:n.*99+5907C>G
ENST00000645345.1:c.*542C>G	ENSP00000495859.1:n.*542C>G
ENST00000647524.1:c.*553C>G	ENSP00000495077.1:n.*553C>G
ENST00000373189.5:c.970C>G	ENSP00000362285.5:p.Pro324Ala
ENST00000469204.1:n.467C>G
NM_001174098.1:c.*199C>G	NP_001167569.1:n.*199C>G
NM_018344.5:c.970C>G	NP_060814.4:p.Pro324Ala
NR_033413.1:n.944C>G
NR_033414.1:n.717C>G
XM_006717910.2:c.736C>G	XP_006717973.1:p.Pro246Ala
NM_001363518.1:c.736C>G	NP_001350447.1:p.Pro246Ala
XM_017016377.2:c.532C>G	XP_016871866.1:p.Pro178Ala
XM_017016378.2:c.352C>G	XP_016871867.1:p.Pro118Ala
NM_018344.6:c.970C>G MANE Select	NP_060814.4:p.Pro324Ala
NM_001174098.2:c.*199C>G	NP_001167569.1:n.*199C>G
NM_001363518.2:c.736C>G	NP_001350447.1:p.Pro246Ala
NR_033413.2:n.938C>G
NR_033414.2:n.711C>G