Canonical Allele Identifier: CA5543163

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 2048647
• ClinVar RCV Id: RCV002931988
• dbSNP Id: rs148003964
• ExAC: 10:73122179 C / T
• gnomAD v2: 10-73122179-C-T
• gnomAD v4: 10-71362422-C-T
• MyVariant Identifiers: chr10:g.73122179C>T (hg19) ; chr10:g.71362422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362422C>T , CM000672.2:g.71362422C>T	GRCh38
NC_000010.10:g.73122179C>T , CM000672.1:g.73122179C>T	GRCh37
NC_000010.9:g.72792185C>T	NCBI36
NG_017066.1:g.48170C>T
NG_017066.2:g.48164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2718C>T
ENST00000373189.6:c.1242C>T MANE Select	ENSP00000362285.5:p.Tyr414=
ENST00000479577.2:c.1008C>T	ENSP00000493995.1:p.Tyr336=
ENST00000642198.1:c.*814C>T	ENSP00000494827.1:n.*814C>T
ENST00000642772.1:c.*94+6179C>T	ENSP00000495041.1:n.*94+6179C>T
ENST00000643042.1:c.863C>T	ENSP00000496674.1:n.863C>T
ENST00000643619.1:c.*825C>T	ENSP00000494378.1:n.*825C>T
ENST00000643752.1:c.*568C>T	ENSP00000495000.1:n.*568C>T
ENST00000644088.1:c.*563C>T	ENSP00000494066.1:n.*563C>T
ENST00000644591.1:c.*568C>T	ENSP00000496664.1:n.*568C>T
ENST00000644895.1:c.*99+6179C>T	ENSP00000493872.1:n.*99+6179C>T
ENST00000645345.1:c.*814C>T	ENSP00000495859.1:n.*814C>T
ENST00000647524.1:c.*825C>T	ENSP00000495077.1:n.*825C>T
ENST00000373189.5:c.1242C>T	ENSP00000362285.5:p.Tyr414=
ENST00000469204.1:n.739C>T
NM_001174098.1:c.*471C>T	NP_001167569.1:n.*471C>T
NM_018344.5:c.1242C>T	NP_060814.4:p.Tyr414=
NR_033413.1:n.1216C>T
NR_033414.1:n.989C>T
XM_006717910.2:c.1008C>T	XP_006717973.1:p.Tyr336=
NM_001363518.1:c.1008C>T	NP_001350447.1:p.Tyr336=
XM_017016377.2:c.804C>T	XP_016871866.1:p.Tyr268=
XM_017016378.2:c.624C>T	XP_016871867.1:p.Tyr208=
NM_018344.6:c.1242C>T MANE Select	NP_060814.4:p.Tyr414=
NM_001174098.2:c.*471C>T	NP_001167569.1:n.*471C>T
NM_001363518.2:c.1008C>T	NP_001350447.1:p.Tyr336=
NR_033413.2:n.1210C>T
NR_033414.2:n.983C>T