Canonical Allele Identifier: CA377113864

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71361983-A-C
• MyVariant Identifiers: chr10:g.73121740A>C (hg19) ; chr10:g.71361983A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71361983A>C , CM000672.2:g.71361983A>C	GRCh38
NC_000010.10:g.73121740A>C , CM000672.1:g.73121740A>C	GRCh37
NC_000010.9:g.72791746A>C	NCBI36
NG_017066.1:g.47731A>C
NG_017066.2:g.47725A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2279A>C
ENST00000373189.6:c.803A>C MANE Select	ENSP00000362285.5:p.His268Pro
ENST00000479577.2:c.569A>C	ENSP00000493995.1:p.His190Pro
ENST00000642198.1:c.*375A>C	ENSP00000494827.1:n.*375A>C
ENST00000642772.1:c.*94+5740A>C	ENSP00000495041.1:n.*94+5740A>C
ENST00000643042.1:c.424A>C	ENSP00000496674.1:n.424A>C
ENST00000643619.1:c.*386A>C	ENSP00000494378.1:n.*386A>C
ENST00000643752.1:c.*129A>C	ENSP00000495000.1:n.*129A>C
ENST00000644088.1:c.*124A>C	ENSP00000494066.1:n.*124A>C
ENST00000644591.1:c.*129A>C	ENSP00000496664.1:n.*129A>C
ENST00000644895.1:c.*99+5740A>C	ENSP00000493872.1:n.*99+5740A>C
ENST00000645345.1:c.*375A>C	ENSP00000495859.1:n.*375A>C
ENST00000647524.1:c.*386A>C	ENSP00000495077.1:n.*386A>C
ENST00000373189.5:c.803A>C	ENSP00000362285.5:p.His268Pro
ENST00000469204.1:n.300A>C
NM_001174098.1:c.*32A>C	NP_001167569.1:n.*32A>C
NM_018344.5:c.803A>C	NP_060814.4:p.His268Pro
NR_033413.1:n.777A>C
NR_033414.1:n.550A>C
XM_006717910.2:c.569A>C	XP_006717973.1:p.His190Pro
NM_001363518.1:c.569A>C	NP_001350447.1:p.His190Pro
XM_017016377.2:c.365A>C	XP_016871866.1:p.His122Pro
XM_017016378.2:c.185A>C	XP_016871867.1:p.His62Pro
NM_018344.6:c.803A>C MANE Select	NP_060814.4:p.His268Pro
NM_001174098.2:c.*32A>C	NP_001167569.1:n.*32A>C
NM_001363518.2:c.569A>C	NP_001350447.1:p.His190Pro
NR_033413.2:n.771A>C
NR_033414.2:n.544A>C