Canonical Allele Identifier: CA5543201

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 1160976
• ClinVar RCV Id: RCV001505276 ; RCV003883680
• dbSNP Id: rs372551556
• ExAC: 10:73122356 C / T
• gnomAD v2: 10-73122356-C-T
• gnomAD v4: 10-71362599-C-T
• MyVariant Identifiers: chr10:g.73122356C>T (hg19) ; chr10:g.71362599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362599C>T , CM000672.2:g.71362599C>T	GRCh38
NC_000010.10:g.73122356C>T , CM000672.1:g.73122356C>T	GRCh37
NC_000010.9:g.72792362C>T	NCBI36
NG_017066.1:g.48347C>T
NG_017066.2:g.48341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2895C>T
ENST00000373189.6:c.1419C>T MANE Select	ENSP00000362285.5:p.His473=
ENST00000479577.2:c.1185C>T	ENSP00000493995.1:p.His395=
ENST00000642198.1:c.*991C>T	ENSP00000494827.1:n.*991C>T
ENST00000642772.1:c.*94+6356C>T	ENSP00000495041.1:n.*94+6356C>T
ENST00000643042.1:c.1040C>T	ENSP00000496674.1:n.1040C>T
ENST00000643619.1:c.*1002C>T	ENSP00000494378.1:n.*1002C>T
ENST00000643752.1:c.*745C>T	ENSP00000495000.1:n.*745C>T
ENST00000644088.1:c.*740C>T	ENSP00000494066.1:n.*740C>T
ENST00000644591.1:c.*745C>T	ENSP00000496664.1:n.*745C>T
ENST00000644895.1:c.*99+6356C>T	ENSP00000493872.1:n.*99+6356C>T
ENST00000645345.1:c.*991C>T	ENSP00000495859.1:n.*991C>T
ENST00000647524.1:c.*1002C>T	ENSP00000495077.1:n.*1002C>T
ENST00000373189.5:c.1419C>T	ENSP00000362285.5:p.His473=
NM_001174098.1:c.*648C>T	NP_001167569.1:n.*648C>T
NM_018344.5:c.1419C>T	NP_060814.4:p.His473=
NR_033413.1:n.1393C>T
NR_033414.1:n.1166C>T
XM_006717910.2:c.1185C>T	XP_006717973.1:p.His395=
NM_001363518.1:c.1185C>T	NP_001350447.1:p.His395=
XM_017016377.2:c.981C>T	XP_016871866.1:p.His327=
XM_017016378.2:c.801C>T	XP_016871867.1:p.His267=
NM_018344.6:c.1419C>T MANE Select	NP_060814.4:p.His473=
NM_001174098.2:c.*648C>T	NP_001167569.1:n.*648C>T
NM_001363518.2:c.1185C>T	NP_001350447.1:p.His395=
NR_033413.2:n.1387C>T
NR_033414.2:n.1160C>T