Canonical Allele Identifier: CA377115418

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73121932C>G (hg19) ; chr10:g.71362175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362175C>G , CM000672.2:g.71362175C>G	GRCh38
NC_000010.10:g.73121932C>G , CM000672.1:g.73121932C>G	GRCh37
NC_000010.9:g.72791938C>G	NCBI36
NG_017066.1:g.47923C>G
NG_017066.2:g.47917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2471C>G
ENST00000373189.6:c.995C>G MANE Select	ENSP00000362285.5:p.Ser332Cys
ENST00000479577.2:c.761C>G	ENSP00000493995.1:p.Ser254Cys
ENST00000642198.1:c.*567C>G	ENSP00000494827.1:n.*567C>G
ENST00000642772.1:c.*94+5932C>G	ENSP00000495041.1:n.*94+5932C>G
ENST00000643042.1:c.616C>G	ENSP00000496674.1:n.616C>G
ENST00000643619.1:c.*578C>G	ENSP00000494378.1:n.*578C>G
ENST00000643752.1:c.*321C>G	ENSP00000495000.1:n.*321C>G
ENST00000644088.1:c.*316C>G	ENSP00000494066.1:n.*316C>G
ENST00000644591.1:c.*321C>G	ENSP00000496664.1:n.*321C>G
ENST00000644895.1:c.*99+5932C>G	ENSP00000493872.1:n.*99+5932C>G
ENST00000645345.1:c.*567C>G	ENSP00000495859.1:n.*567C>G
ENST00000647524.1:c.*578C>G	ENSP00000495077.1:n.*578C>G
ENST00000373189.5:c.995C>G	ENSP00000362285.5:p.Ser332Cys
ENST00000469204.1:n.492C>G
NM_001174098.1:c.*224C>G	NP_001167569.1:n.*224C>G
NM_018344.5:c.995C>G	NP_060814.4:p.Ser332Cys
NR_033413.1:n.969C>G
NR_033414.1:n.742C>G
XM_006717910.2:c.761C>G	XP_006717973.1:p.Ser254Cys
NM_001363518.1:c.761C>G	NP_001350447.1:p.Ser254Cys
XM_017016377.2:c.557C>G	XP_016871866.1:p.Ser186Cys
XM_017016378.2:c.377C>G	XP_016871867.1:p.Ser126Cys
NM_018344.6:c.995C>G MANE Select	NP_060814.4:p.Ser332Cys
NM_001174098.2:c.*224C>G	NP_001167569.1:n.*224C>G
NM_001363518.2:c.761C>G	NP_001350447.1:p.Ser254Cys
NR_033413.2:n.963C>G
NR_033414.2:n.736C>G