Canonical Allele Identifier: CA377114872

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1522179
• ClinVar RCV Id: RCV002034294
• dbSNP Id: rs2131851398
• MyVariant Identifiers: chr10:g.73121863G>T (hg19) ; chr10:g.71362106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362106G>T , CM000672.2:g.71362106G>T	GRCh38
NC_000010.10:g.73121863G>T , CM000672.1:g.73121863G>T	GRCh37
NC_000010.9:g.72791869G>T	NCBI36
NG_017066.1:g.47854G>T
NG_017066.2:g.47848G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2402G>T
ENST00000373189.6:c.926G>T MANE Select	ENSP00000362285.5:p.Gly309Val
ENST00000479577.2:c.692G>T	ENSP00000493995.1:p.Gly231Val
ENST00000642198.1:c.*498G>T	ENSP00000494827.1:n.*498G>T
ENST00000642772.1:c.*94+5863G>T	ENSP00000495041.1:n.*94+5863G>T
ENST00000643042.1:c.547G>T	ENSP00000496674.1:n.547G>T
ENST00000643619.1:c.*509G>T	ENSP00000494378.1:n.*509G>T
ENST00000643752.1:c.*252G>T	ENSP00000495000.1:n.*252G>T
ENST00000644088.1:c.*247G>T	ENSP00000494066.1:n.*247G>T
ENST00000644591.1:c.*252G>T	ENSP00000496664.1:n.*252G>T
ENST00000644895.1:c.*99+5863G>T	ENSP00000493872.1:n.*99+5863G>T
ENST00000645345.1:c.*498G>T	ENSP00000495859.1:n.*498G>T
ENST00000647524.1:c.*509G>T	ENSP00000495077.1:n.*509G>T
ENST00000373189.5:c.926G>T	ENSP00000362285.5:p.Gly309Val
ENST00000469204.1:n.423G>T
NM_001174098.1:c.*155G>T	NP_001167569.1:n.*155G>T
NM_018344.5:c.926G>T	NP_060814.4:p.Gly309Val
NR_033413.1:n.900G>T
NR_033414.1:n.673G>T
XM_006717910.2:c.692G>T	XP_006717973.1:p.Gly231Val
NM_001363518.1:c.692G>T	NP_001350447.1:p.Gly231Val
XM_017016377.2:c.488G>T	XP_016871866.1:p.Gly163Val
XM_017016378.2:c.308G>T	XP_016871867.1:p.Gly103Val
NM_018344.6:c.926G>T MANE Select	NP_060814.4:p.Gly309Val
NM_001174098.2:c.*155G>T	NP_001167569.1:n.*155G>T
NM_001363518.2:c.692G>T	NP_001350447.1:p.Gly231Val
NR_033413.2:n.894G>T
NR_033414.2:n.667G>T