Canonical Allele Identifier: CA377116915

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1239067533
• gnomAD v3: 10-71362321-G-T
• gnomAD v4: 10-71362321-G-T
• MyVariant Identifiers: chr10:g.73122078G>T (hg19) ; chr10:g.71362321G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362321G>T , CM000672.2:g.71362321G>T	GRCh38
NC_000010.10:g.73122078G>T , CM000672.1:g.73122078G>T	GRCh37
NC_000010.9:g.72792084G>T	NCBI36
NG_017066.1:g.48069G>T
NG_017066.2:g.48063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2617G>T
ENST00000373189.6:c.1141G>T MANE Select	ENSP00000362285.5:p.Gly381Trp
ENST00000479577.2:c.907G>T	ENSP00000493995.1:p.Gly303Trp
ENST00000642198.1:c.*713G>T	ENSP00000494827.1:n.*713G>T
ENST00000642772.1:c.*94+6078G>T	ENSP00000495041.1:n.*94+6078G>T
ENST00000643042.1:c.762G>T	ENSP00000496674.1:n.762G>T
ENST00000643619.1:c.*724G>T	ENSP00000494378.1:n.*724G>T
ENST00000643752.1:c.*467G>T	ENSP00000495000.1:n.*467G>T
ENST00000644088.1:c.*462G>T	ENSP00000494066.1:n.*462G>T
ENST00000644591.1:c.*467G>T	ENSP00000496664.1:n.*467G>T
ENST00000644895.1:c.*99+6078G>T	ENSP00000493872.1:n.*99+6078G>T
ENST00000645345.1:c.*713G>T	ENSP00000495859.1:n.*713G>T
ENST00000647524.1:c.*724G>T	ENSP00000495077.1:n.*724G>T
ENST00000373189.5:c.1141G>T	ENSP00000362285.5:p.Gly381Trp
ENST00000469204.1:n.638G>T
NM_001174098.1:c.*370G>T	NP_001167569.1:n.*370G>T
NM_018344.5:c.1141G>T	NP_060814.4:p.Gly381Trp
NR_033413.1:n.1115G>T
NR_033414.1:n.888G>T
XM_006717910.2:c.907G>T	XP_006717973.1:p.Gly303Trp
NM_001363518.1:c.907G>T	NP_001350447.1:p.Gly303Trp
XM_017016377.2:c.703G>T	XP_016871866.1:p.Gly235Trp
XM_017016378.2:c.523G>T	XP_016871867.1:p.Gly175Trp
NM_018344.6:c.1141G>T MANE Select	NP_060814.4:p.Gly381Trp
NM_001174098.2:c.*370G>T	NP_001167569.1:n.*370G>T
NM_001363518.2:c.907G>T	NP_001350447.1:p.Gly303Trp
NR_033413.2:n.1109G>T
NR_033414.2:n.882G>T