Canonical Allele Identifier: CA470281485

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362434-C-T
• COSMIC: COSM414971
• MyVariant Identifiers: chr10:g.73122191C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362434C>T , CM000672.2:g.71362434C>T	GRCh38
NC_000010.10:g.73122191C>T , CM000672.1:g.73122191C>T	GRCh37
NC_000010.9:g.72792197C>T	NCBI36
NG_017066.1:g.48182C>T
NG_017066.2:g.48176C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2730C>T
ENST00000373189.6:c.1254C>T MANE Select	ENSP00000362285.5:p.Leu418=
ENST00000479577.2:c.1020C>T	ENSP00000493995.1:p.Leu340=
ENST00000642198.1:c.*826C>T	ENSP00000494827.1:n.*826C>T
ENST00000642772.1:c.*94+6191C>T	ENSP00000495041.1:n.*94+6191C>T
ENST00000643042.1:c.875C>T	ENSP00000496674.1:n.875C>T
ENST00000643619.1:c.*837C>T	ENSP00000494378.1:n.*837C>T
ENST00000643752.1:c.*580C>T	ENSP00000495000.1:n.*580C>T
ENST00000644088.1:c.*575C>T	ENSP00000494066.1:n.*575C>T
ENST00000644591.1:c.*580C>T	ENSP00000496664.1:n.*580C>T
ENST00000644895.1:c.*99+6191C>T	ENSP00000493872.1:n.*99+6191C>T
ENST00000645345.1:c.*826C>T	ENSP00000495859.1:n.*826C>T
ENST00000647524.1:c.*837C>T	ENSP00000495077.1:n.*837C>T
ENST00000373189.5:c.1254C>T	ENSP00000362285.5:p.Leu418=
ENST00000469204.1:n.751C>T
NM_001174098.1:c.*483C>T	NP_001167569.1:n.*483C>T
NM_018344.5:c.1254C>T	NP_060814.4:p.Leu418=
NR_033413.1:n.1228C>T
NR_033414.1:n.1001C>T
XM_006717910.2:c.1020C>T	XP_006717973.1:p.Leu340=
NM_001363518.1:c.1020C>T	NP_001350447.1:p.Leu340=
XM_017016377.2:c.816C>T	XP_016871866.1:p.Leu272=
XM_017016378.2:c.636C>T	XP_016871867.1:p.Leu212=
NM_018344.6:c.1254C>T MANE Select	NP_060814.4:p.Leu418=
NM_001174098.2:c.*483C>T	NP_001167569.1:n.*483C>T
NM_001363518.2:c.1020C>T	NP_001350447.1:p.Leu340=
NR_033413.2:n.1222C>T
NR_033414.2:n.995C>T