Canonical Allele Identifier: CA470281005

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1566050
• ClinVar RCV Id: RCV002220189
• dbSNP Id: rs2131851352
• MyVariant Identifiers: chr10:g.73121840C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362083C>T , CM000672.2:g.71362083C>T	GRCh38
NC_000010.10:g.73121840C>T , CM000672.1:g.73121840C>T	GRCh37
NC_000010.9:g.72791846C>T	NCBI36
NG_017066.1:g.47831C>T
NG_017066.2:g.47825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2379C>T
ENST00000373189.6:c.903C>T MANE Select	ENSP00000362285.5:p.Ile301=
ENST00000479577.2:c.669C>T	ENSP00000493995.1:p.Ile223=
ENST00000642198.1:c.*475C>T	ENSP00000494827.1:n.*475C>T
ENST00000642772.1:c.*94+5840C>T	ENSP00000495041.1:n.*94+5840C>T
ENST00000643042.1:c.524C>T	ENSP00000496674.1:n.524C>T
ENST00000643619.1:c.*486C>T	ENSP00000494378.1:n.*486C>T
ENST00000643752.1:c.*229C>T	ENSP00000495000.1:n.*229C>T
ENST00000644088.1:c.*224C>T	ENSP00000494066.1:n.*224C>T
ENST00000644591.1:c.*229C>T	ENSP00000496664.1:n.*229C>T
ENST00000644895.1:c.*99+5840C>T	ENSP00000493872.1:n.*99+5840C>T
ENST00000645345.1:c.*475C>T	ENSP00000495859.1:n.*475C>T
ENST00000647524.1:c.*486C>T	ENSP00000495077.1:n.*486C>T
ENST00000373189.5:c.903C>T	ENSP00000362285.5:p.Ile301=
ENST00000469204.1:n.400C>T
NM_001174098.1:c.*132C>T	NP_001167569.1:n.*132C>T
NM_018344.5:c.903C>T	NP_060814.4:p.Ile301=
NR_033413.1:n.877C>T
NR_033414.1:n.650C>T
XM_006717910.2:c.669C>T	XP_006717973.1:p.Ile223=
NM_001363518.1:c.669C>T	NP_001350447.1:p.Ile223=
XM_017016377.2:c.465C>T	XP_016871866.1:p.Ile155=
XM_017016378.2:c.285C>T	XP_016871867.1:p.Ile95=
NM_018344.6:c.903C>T MANE Select	NP_060814.4:p.Ile301=
NM_001174098.2:c.*132C>T	NP_001167569.1:n.*132C>T
NM_001363518.2:c.669C>T	NP_001350447.1:p.Ile223=
NR_033413.2:n.871C>T
NR_033414.2:n.644C>T