Canonical Allele Identifier: CA155236

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 130338
• ClinVar RCV Id: RCV000118376 ; RCV002307398
• dbSNP Id: rs587780462
• ExAC: 10:73122165 C / T
• gnomAD v2: 10-73122165-C-T
• gnomAD v3: 10-71362408-C-T
• gnomAD v4: 10-71362408-C-T
• MyVariant Identifiers: chr10:g.73122165C>T (hg19) ; chr10:g.71362408C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362408C>T , CM000672.2:g.71362408C>T	GRCh38
NC_000010.10:g.73122165C>T , CM000672.1:g.73122165C>T	GRCh37
NC_000010.9:g.72792171C>T	NCBI36
NG_017066.1:g.48156C>T
NG_017066.2:g.48150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2704C>T
ENST00000373189.6:c.1228C>T MANE Select	ENSP00000362285.5:p.Gln410Ter
ENST00000479577.2:c.994C>T	ENSP00000493995.1:p.Gln332Ter
ENST00000642198.1:c.*800C>T	ENSP00000494827.1:n.*800C>T
ENST00000642772.1:c.*94+6165C>T	ENSP00000495041.1:n.*94+6165C>T
ENST00000643042.1:c.849C>T	ENSP00000496674.1:n.849C>T
ENST00000643619.1:c.*811C>T	ENSP00000494378.1:n.*811C>T
ENST00000643752.1:c.*554C>T	ENSP00000495000.1:n.*554C>T
ENST00000644088.1:c.*549C>T	ENSP00000494066.1:n.*549C>T
ENST00000644591.1:c.*554C>T	ENSP00000496664.1:n.*554C>T
ENST00000644895.1:c.*99+6165C>T	ENSP00000493872.1:n.*99+6165C>T
ENST00000645345.1:c.*800C>T	ENSP00000495859.1:n.*800C>T
ENST00000647524.1:c.*811C>T	ENSP00000495077.1:n.*811C>T
ENST00000373189.5:c.1228C>T	ENSP00000362285.5:p.Gln410Ter
ENST00000469204.1:n.725C>T
NM_001174098.1:c.*457C>T	NP_001167569.1:n.*457C>T
NM_018344.5:c.1228C>T	NP_060814.4:p.Gln410Ter
NR_033413.1:n.1202C>T
NR_033414.1:n.975C>T
XM_006717910.2:c.994C>T	XP_006717973.1:p.Gln332Ter
NM_001363518.1:c.994C>T	NP_001350447.1:p.Gln332Ter
XM_017016377.2:c.790C>T	XP_016871866.1:p.Gln264Ter
XM_017016378.2:c.610C>T	XP_016871867.1:p.Gln204Ter
NM_018344.6:c.1228C>T MANE Select	NP_060814.4:p.Gln410Ter
NM_001174098.2:c.*457C>T	NP_001167569.1:n.*457C>T
NM_001363518.2:c.994C>T	NP_001350447.1:p.Gln332Ter
NR_033413.2:n.1196C>T
NR_033414.2:n.969C>T