Canonical Allele Identifier: CA377114450

Gene: SLC29A3

Linked Data

• dbSNP Id: rs2131851282
• gnomAD v4: 10-71362063-A-C
• MyVariant Identifiers: chr10:g.73121820A>C (hg19) ; chr10:g.71362063A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362063A>C , CM000672.2:g.71362063A>C	GRCh38
NC_000010.10:g.73121820A>C , CM000672.1:g.73121820A>C	GRCh37
NC_000010.9:g.72791826A>C	NCBI36
NG_017066.1:g.47811A>C
NG_017066.2:g.47805A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2359A>C
ENST00000373189.6:c.883A>C MANE Select	ENSP00000362285.5:p.Thr295Pro
ENST00000479577.2:c.649A>C	ENSP00000493995.1:p.Thr217Pro
ENST00000642198.1:c.*455A>C	ENSP00000494827.1:n.*455A>C
ENST00000642772.1:c.*94+5820A>C	ENSP00000495041.1:n.*94+5820A>C
ENST00000643042.1:c.504A>C	ENSP00000496674.1:n.504A>C
ENST00000643619.1:c.*466A>C	ENSP00000494378.1:n.*466A>C
ENST00000643752.1:c.*209A>C	ENSP00000495000.1:n.*209A>C
ENST00000644088.1:c.*204A>C	ENSP00000494066.1:n.*204A>C
ENST00000644591.1:c.*209A>C	ENSP00000496664.1:n.*209A>C
ENST00000644895.1:c.*99+5820A>C	ENSP00000493872.1:n.*99+5820A>C
ENST00000645345.1:c.*455A>C	ENSP00000495859.1:n.*455A>C
ENST00000647524.1:c.*466A>C	ENSP00000495077.1:n.*466A>C
ENST00000373189.5:c.883A>C	ENSP00000362285.5:p.Thr295Pro
ENST00000469204.1:n.380A>C
NM_001174098.1:c.*112A>C	NP_001167569.1:n.*112A>C
NM_018344.5:c.883A>C	NP_060814.4:p.Thr295Pro
NR_033413.1:n.857A>C
NR_033414.1:n.630A>C
XM_006717910.2:c.649A>C	XP_006717973.1:p.Thr217Pro
NM_001363518.1:c.649A>C	NP_001350447.1:p.Thr217Pro
XM_017016377.2:c.445A>C	XP_016871866.1:p.Thr149Pro
XM_017016378.2:c.265A>C	XP_016871867.1:p.Thr89Pro
NM_018344.6:c.883A>C MANE Select	NP_060814.4:p.Thr295Pro
NM_001174098.2:c.*112A>C	NP_001167569.1:n.*112A>C
NM_001363518.2:c.649A>C	NP_001350447.1:p.Thr217Pro
NR_033413.2:n.851A>C
NR_033414.2:n.624A>C