Canonical Allele Identifier: CA5543172

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1157816
• ClinVar RCV Id: RCV001500988
• dbSNP Id: rs764543735
• ExAC: 10:73122215 C / T
• gnomAD v2: 10-73122215-C-T
• gnomAD v3: 10-71362458-C-T
• gnomAD v4: 10-71362458-C-T
• MyVariant Identifiers: chr10:g.73122215C>T (hg19) ; chr10:g.71362458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362458C>T , CM000672.2:g.71362458C>T	GRCh38
NC_000010.10:g.73122215C>T , CM000672.1:g.73122215C>T	GRCh37
NC_000010.9:g.72792221C>T	NCBI36
NG_017066.1:g.48206C>T
NG_017066.2:g.48200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2754C>T
ENST00000373189.6:c.1278C>T MANE Select	ENSP00000362285.5:p.Asn426=
ENST00000479577.2:c.1044C>T	ENSP00000493995.1:p.Asn348=
ENST00000642198.1:c.*850C>T	ENSP00000494827.1:n.*850C>T
ENST00000642772.1:c.*94+6215C>T	ENSP00000495041.1:n.*94+6215C>T
ENST00000643042.1:c.899C>T	ENSP00000496674.1:n.899C>T
ENST00000643619.1:c.*861C>T	ENSP00000494378.1:n.*861C>T
ENST00000643752.1:c.*604C>T	ENSP00000495000.1:n.*604C>T
ENST00000644088.1:c.*599C>T	ENSP00000494066.1:n.*599C>T
ENST00000644591.1:c.*604C>T	ENSP00000496664.1:n.*604C>T
ENST00000644895.1:c.*99+6215C>T	ENSP00000493872.1:n.*99+6215C>T
ENST00000645345.1:c.*850C>T	ENSP00000495859.1:n.*850C>T
ENST00000647524.1:c.*861C>T	ENSP00000495077.1:n.*861C>T
ENST00000373189.5:c.1278C>T	ENSP00000362285.5:p.Asn426=
ENST00000469204.1:n.775C>T
NM_001174098.1:c.*507C>T	NP_001167569.1:n.*507C>T
NM_018344.5:c.1278C>T	NP_060814.4:p.Asn426=
NR_033413.1:n.1252C>T
NR_033414.1:n.1025C>T
XM_006717910.2:c.1044C>T	XP_006717973.1:p.Asn348=
NM_001363518.1:c.1044C>T	NP_001350447.1:p.Asn348=
XM_017016377.2:c.840C>T	XP_016871866.1:p.Asn280=
XM_017016378.2:c.660C>T	XP_016871867.1:p.Asn220=
NM_018344.6:c.1278C>T MANE Select	NP_060814.4:p.Asn426=
NM_001174098.2:c.*507C>T	NP_001167569.1:n.*507C>T
NM_001363518.2:c.1044C>T	NP_001350447.1:p.Asn348=
NR_033413.2:n.1246C>T
NR_033414.2:n.1019C>T