Canonical Allele Identifier: CA5543112

Gene: SLC29A3

Linked Data

• dbSNP Id: rs751370137
• ExAC: 10:73121951 C / T
• gnomAD v2: 10-73121951-C-T
• gnomAD v4: 10-71362194-C-T
• MyVariant Identifiers: chr10:g.73121951C>T (hg19) ; chr10:g.71362194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362194C>T , CM000672.2:g.71362194C>T	GRCh38
NC_000010.10:g.73121951C>T , CM000672.1:g.73121951C>T	GRCh37
NC_000010.9:g.72791957C>T	NCBI36
NG_017066.1:g.47942C>T
NG_017066.2:g.47936C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2490C>T
ENST00000373189.6:c.1014C>T MANE Select	ENSP00000362285.5:p.Gly338=
ENST00000479577.2:c.780C>T	ENSP00000493995.1:p.Gly260=
ENST00000642198.1:c.*586C>T	ENSP00000494827.1:n.*586C>T
ENST00000642772.1:c.*94+5951C>T	ENSP00000495041.1:n.*94+5951C>T
ENST00000643042.1:c.635C>T	ENSP00000496674.1:n.635C>T
ENST00000643619.1:c.*597C>T	ENSP00000494378.1:n.*597C>T
ENST00000643752.1:c.*340C>T	ENSP00000495000.1:n.*340C>T
ENST00000644088.1:c.*335C>T	ENSP00000494066.1:n.*335C>T
ENST00000644591.1:c.*340C>T	ENSP00000496664.1:n.*340C>T
ENST00000644895.1:c.*99+5951C>T	ENSP00000493872.1:n.*99+5951C>T
ENST00000645345.1:c.*586C>T	ENSP00000495859.1:n.*586C>T
ENST00000647524.1:c.*597C>T	ENSP00000495077.1:n.*597C>T
ENST00000373189.5:c.1014C>T	ENSP00000362285.5:p.Gly338=
ENST00000469204.1:n.511C>T
NM_001174098.1:c.*243C>T	NP_001167569.1:n.*243C>T
NM_018344.5:c.1014C>T	NP_060814.4:p.Gly338=
NR_033413.1:n.988C>T
NR_033414.1:n.761C>T
XM_006717910.2:c.780C>T	XP_006717973.1:p.Gly260=
NM_001363518.1:c.780C>T	NP_001350447.1:p.Gly260=
XM_017016377.2:c.576C>T	XP_016871866.1:p.Gly192=
XM_017016378.2:c.396C>T	XP_016871867.1:p.Gly132=
NM_018344.6:c.1014C>T MANE Select	NP_060814.4:p.Gly338=
NM_001174098.2:c.*243C>T	NP_001167569.1:n.*243C>T
NM_001363518.2:c.780C>T	NP_001350447.1:p.Gly260=
NR_033413.2:n.982C>T
NR_033414.2:n.755C>T