Canonical Allele Identifier: CA377113927

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121749C>G (hg19) ; chr10:g.71361992C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361992C>G , CM000672.2:g.71361992C>G	GRCh38
NC_000010.10:g.73121749C>G , CM000672.1:g.73121749C>G	GRCh37
NC_000010.9:g.72791755C>G	NCBI36
NG_017066.1:g.47740C>G
NG_017066.2:g.47734C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2288C>G
ENST00000373189.6:c.812C>G MANE Select	ENSP00000362285.5:p.Ser271Cys
ENST00000479577.2:c.578C>G	ENSP00000493995.1:p.Ser193Cys
ENST00000642198.1:c.*384C>G	ENSP00000494827.1:n.*384C>G
ENST00000642772.1:c.*94+5749C>G	ENSP00000495041.1:n.*94+5749C>G
ENST00000643042.1:c.433C>G	ENSP00000496674.1:n.433C>G
ENST00000643619.1:c.*395C>G	ENSP00000494378.1:n.*395C>G
ENST00000643752.1:c.*138C>G	ENSP00000495000.1:n.*138C>G
ENST00000644088.1:c.*133C>G	ENSP00000494066.1:n.*133C>G
ENST00000644591.1:c.*138C>G	ENSP00000496664.1:n.*138C>G
ENST00000644895.1:c.*99+5749C>G	ENSP00000493872.1:n.*99+5749C>G
ENST00000645345.1:c.*384C>G	ENSP00000495859.1:n.*384C>G
ENST00000647524.1:c.*395C>G	ENSP00000495077.1:n.*395C>G
ENST00000373189.5:c.812C>G	ENSP00000362285.5:p.Ser271Cys
ENST00000469204.1:n.309C>G
NM_001174098.1:c.*41C>G	NP_001167569.1:n.*41C>G
NM_018344.5:c.812C>G	NP_060814.4:p.Ser271Cys
NR_033413.1:n.786C>G
NR_033414.1:n.559C>G
XM_006717910.2:c.578C>G	XP_006717973.1:p.Ser193Cys
NM_001363518.1:c.578C>G	NP_001350447.1:p.Ser193Cys
XM_017016377.2:c.374C>G	XP_016871866.1:p.Ser125Cys
XM_017016378.2:c.194C>G	XP_016871867.1:p.Ser65Cys
NM_018344.6:c.812C>G MANE Select	NP_060814.4:p.Ser271Cys
NM_001174098.2:c.*41C>G	NP_001167569.1:n.*41C>G
NM_001363518.2:c.578C>G	NP_001350447.1:p.Ser193Cys
NR_033413.2:n.780C>G
NR_033414.2:n.553C>G