Canonical Allele Identifier: CA5543100

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1582408
• ClinVar RCV Id: RCV002091035
• dbSNP Id: rs144433073
• ExAC: 10:73121918 C / T
• gnomAD v2: 10-73121918-C-T
• gnomAD v3: 10-71362161-C-T
• gnomAD v4: 10-71362161-C-T
• MyVariant Identifiers: chr10:g.73121918C>T (hg19) ; chr10:g.71362161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362161C>T , CM000672.2:g.71362161C>T	GRCh38
NC_000010.10:g.73121918C>T , CM000672.1:g.73121918C>T	GRCh37
NC_000010.9:g.72791924C>T	NCBI36
NG_017066.1:g.47909C>T
NG_017066.2:g.47903C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2457C>T
ENST00000373189.6:c.981C>T MANE Select	ENSP00000362285.5:p.Cys327=
ENST00000479577.2:c.747C>T	ENSP00000493995.1:p.Cys249=
ENST00000642198.1:c.*553C>T	ENSP00000494827.1:n.*553C>T
ENST00000642772.1:c.*94+5918C>T	ENSP00000495041.1:n.*94+5918C>T
ENST00000643042.1:c.602C>T	ENSP00000496674.1:n.602C>T
ENST00000643619.1:c.*564C>T	ENSP00000494378.1:n.*564C>T
ENST00000643752.1:c.*307C>T	ENSP00000495000.1:n.*307C>T
ENST00000644088.1:c.*302C>T	ENSP00000494066.1:n.*302C>T
ENST00000644591.1:c.*307C>T	ENSP00000496664.1:n.*307C>T
ENST00000644895.1:c.*99+5918C>T	ENSP00000493872.1:n.*99+5918C>T
ENST00000645345.1:c.*553C>T	ENSP00000495859.1:n.*553C>T
ENST00000647524.1:c.*564C>T	ENSP00000495077.1:n.*564C>T
ENST00000373189.5:c.981C>T	ENSP00000362285.5:p.Cys327=
ENST00000469204.1:n.478C>T
NM_001174098.1:c.*210C>T	NP_001167569.1:n.*210C>T
NM_018344.5:c.981C>T	NP_060814.4:p.Cys327=
NR_033413.1:n.955C>T
NR_033414.1:n.728C>T
XM_006717910.2:c.747C>T	XP_006717973.1:p.Cys249=
NM_001363518.1:c.747C>T	NP_001350447.1:p.Cys249=
XM_017016377.2:c.543C>T	XP_016871866.1:p.Cys181=
XM_017016378.2:c.363C>T	XP_016871867.1:p.Cys121=
NM_018344.6:c.981C>T MANE Select	NP_060814.4:p.Cys327=
NM_001174098.2:c.*210C>T	NP_001167569.1:n.*210C>T
NM_001363518.2:c.747C>T	NP_001350447.1:p.Cys249=
NR_033413.2:n.949C>T
NR_033414.2:n.722C>T