Canonical Allele Identifier: CA470280879

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1234857368
• gnomAD v2: 10-73121786-C-T
• gnomAD v4: 10-71362029-C-T
• MyVariant Identifiers: chr10:g.73121786C>T (hg19) ; chr10:g.71362029C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362029C>T , CM000672.2:g.71362029C>T	GRCh38
NC_000010.10:g.73121786C>T , CM000672.1:g.73121786C>T	GRCh37
NC_000010.9:g.72791792C>T	NCBI36
NG_017066.1:g.47777C>T
NG_017066.2:g.47771C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2325C>T
ENST00000373189.6:c.849C>T MANE Select	ENSP00000362285.5:p.Ala283=
ENST00000479577.2:c.615C>T	ENSP00000493995.1:p.Ala205=
ENST00000642198.1:c.*421C>T	ENSP00000494827.1:n.*421C>T
ENST00000642772.1:c.*94+5786C>T	ENSP00000495041.1:n.*94+5786C>T
ENST00000643042.1:c.470C>T	ENSP00000496674.1:n.470C>T
ENST00000643619.1:c.*432C>T	ENSP00000494378.1:n.*432C>T
ENST00000643752.1:c.*175C>T	ENSP00000495000.1:n.*175C>T
ENST00000644088.1:c.*170C>T	ENSP00000494066.1:n.*170C>T
ENST00000644591.1:c.*175C>T	ENSP00000496664.1:n.*175C>T
ENST00000644895.1:c.*99+5786C>T	ENSP00000493872.1:n.*99+5786C>T
ENST00000645345.1:c.*421C>T	ENSP00000495859.1:n.*421C>T
ENST00000647524.1:c.*432C>T	ENSP00000495077.1:n.*432C>T
ENST00000373189.5:c.849C>T	ENSP00000362285.5:p.Ala283=
ENST00000469204.1:n.346C>T
NM_001174098.1:c.*78C>T	NP_001167569.1:n.*78C>T
NM_018344.5:c.849C>T	NP_060814.4:p.Ala283=
NR_033413.1:n.823C>T
NR_033414.1:n.596C>T
XM_006717910.2:c.615C>T	XP_006717973.1:p.Ala205=
NM_001363518.1:c.615C>T	NP_001350447.1:p.Ala205=
XM_017016377.2:c.411C>T	XP_016871866.1:p.Ala137=
XM_017016378.2:c.231C>T	XP_016871867.1:p.Ala77=
NM_018344.6:c.849C>T MANE Select	NP_060814.4:p.Ala283=
NM_001174098.2:c.*78C>T	NP_001167569.1:n.*78C>T
NM_001363518.2:c.615C>T	NP_001350447.1:p.Ala205=
NR_033413.2:n.817C>T
NR_033414.2:n.590C>T