Canonical Allele Identifier: CA5543118

Gene: SLC29A3

Linked Data

• dbSNP Id: rs140466083
• ExAC: 10:73122026 G / T
• gnomAD v4: 10-71362269-G-T
• MyVariant Identifiers: chr10:g.73122026G>T (hg19) ; chr10:g.71362269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362269G>T , CM000672.2:g.71362269G>T	GRCh38
NC_000010.10:g.73122026G>T , CM000672.1:g.73122026G>T	GRCh37
NC_000010.9:g.72792032G>T	NCBI36
NG_017066.1:g.48017G>T
NG_017066.2:g.48011G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2565G>T
ENST00000373189.6:c.1089G>T MANE Select	ENSP00000362285.5:p.Arg363=
ENST00000479577.2:c.855G>T	ENSP00000493995.1:p.Arg285=
ENST00000642198.1:c.*661G>T	ENSP00000494827.1:n.*661G>T
ENST00000642772.1:c.*94+6026G>T	ENSP00000495041.1:n.*94+6026G>T
ENST00000643042.1:c.710G>T	ENSP00000496674.1:n.710G>T
ENST00000643619.1:c.*672G>T	ENSP00000494378.1:n.*672G>T
ENST00000643752.1:c.*415G>T	ENSP00000495000.1:n.*415G>T
ENST00000644088.1:c.*410G>T	ENSP00000494066.1:n.*410G>T
ENST00000644591.1:c.*415G>T	ENSP00000496664.1:n.*415G>T
ENST00000644895.1:c.*99+6026G>T	ENSP00000493872.1:n.*99+6026G>T
ENST00000645345.1:c.*661G>T	ENSP00000495859.1:n.*661G>T
ENST00000647524.1:c.*672G>T	ENSP00000495077.1:n.*672G>T
ENST00000373189.5:c.1089G>T	ENSP00000362285.5:p.Arg363=
ENST00000469204.1:n.586G>T
NM_001174098.1:c.*318G>T	NP_001167569.1:n.*318G>T
NM_018344.5:c.1089G>T	NP_060814.4:p.Arg363=
NR_033413.1:n.1063G>T
NR_033414.1:n.836G>T
XM_006717910.2:c.855G>T	XP_006717973.1:p.Arg285=
NM_001363518.1:c.855G>T	NP_001350447.1:p.Arg285=
XM_017016377.2:c.651G>T	XP_016871866.1:p.Arg217=
XM_017016378.2:c.471G>T	XP_016871867.1:p.Arg157=
NM_018344.6:c.1089G>T MANE Select	NP_060814.4:p.Arg363=
NM_001174098.2:c.*318G>T	NP_001167569.1:n.*318G>T
NM_001363518.2:c.855G>T	NP_001350447.1:p.Arg285=
NR_033413.2:n.1057G>T
NR_033414.2:n.830G>T