Canonical Allele Identifier: CA377117122

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122186C>G (hg19) ; chr10:g.71362429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362429C>G , CM000672.2:g.71362429C>G	GRCh38
NC_000010.10:g.73122186C>G , CM000672.1:g.73122186C>G	GRCh37
NC_000010.9:g.72792192C>G	NCBI36
NG_017066.1:g.48177C>G
NG_017066.2:g.48171C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2725C>G
ENST00000373189.6:c.1249C>G MANE Select	ENSP00000362285.5:p.Leu417Val
ENST00000479577.2:c.1015C>G	ENSP00000493995.1:p.Leu339Val
ENST00000642198.1:c.*821C>G	ENSP00000494827.1:n.*821C>G
ENST00000642772.1:c.*94+6186C>G	ENSP00000495041.1:n.*94+6186C>G
ENST00000643042.1:c.870C>G	ENSP00000496674.1:n.870C>G
ENST00000643619.1:c.*832C>G	ENSP00000494378.1:n.*832C>G
ENST00000643752.1:c.*575C>G	ENSP00000495000.1:n.*575C>G
ENST00000644088.1:c.*570C>G	ENSP00000494066.1:n.*570C>G
ENST00000644591.1:c.*575C>G	ENSP00000496664.1:n.*575C>G
ENST00000644895.1:c.*99+6186C>G	ENSP00000493872.1:n.*99+6186C>G
ENST00000645345.1:c.*821C>G	ENSP00000495859.1:n.*821C>G
ENST00000647524.1:c.*832C>G	ENSP00000495077.1:n.*832C>G
ENST00000373189.5:c.1249C>G	ENSP00000362285.5:p.Leu417Val
ENST00000469204.1:n.746C>G
NM_001174098.1:c.*478C>G	NP_001167569.1:n.*478C>G
NM_018344.5:c.1249C>G	NP_060814.4:p.Leu417Val
NR_033413.1:n.1223C>G
NR_033414.1:n.996C>G
XM_006717910.2:c.1015C>G	XP_006717973.1:p.Leu339Val
NM_001363518.1:c.1015C>G	NP_001350447.1:p.Leu339Val
XM_017016377.2:c.811C>G	XP_016871866.1:p.Leu271Val
XM_017016378.2:c.631C>G	XP_016871867.1:p.Leu211Val
NM_018344.6:c.1249C>G MANE Select	NP_060814.4:p.Leu417Val
NM_001174098.2:c.*478C>G	NP_001167569.1:n.*478C>G
NM_001363518.2:c.1015C>G	NP_001350447.1:p.Leu339Val
NR_033413.2:n.1217C>G
NR_033414.2:n.990C>G