Canonical Allele Identifier: CA594705543

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 880067
• ClinVar RCV Id: RCV001108075
• dbSNP Id: rs768698488
• gnomAD v2: 10-73122476-A-G
• gnomAD v4: 10-71362719-A-G
• MyVariant Identifiers: chr10:g.73122476A>G (hg19) ; chr10:g.71362719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362719A>G , CM000672.2:g.71362719A>G	GRCh38
NC_000010.10:g.73122476A>G , CM000672.1:g.73122476A>G	GRCh37
NC_000010.9:g.72792482A>G	NCBI36
NG_017066.1:g.48467A>G
NG_017066.2:g.48461A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.3015A>G
ENST00000373189.6:c.*111A>G MANE Select	ENSP00000362285.5:n.*111A>G
ENST00000479577.2:c.*111A>G	ENSP00000493995.1:n.*111A>G
ENST00000642198.1:c.*1111A>G	ENSP00000494827.1:n.*1111A>G
ENST00000642772.1:c.*94+6476A>G	ENSP00000495041.1:n.*94+6476A>G
ENST00000643042.1:c.1160A>G	ENSP00000496674.1:n.1160A>G
ENST00000643619.1:c.*1122A>G	ENSP00000494378.1:n.*1122A>G
ENST00000643752.1:c.*865A>G	ENSP00000495000.1:n.*865A>G
ENST00000644088.1:c.*860A>G	ENSP00000494066.1:n.*860A>G
ENST00000644591.1:c.*865A>G	ENSP00000496664.1:n.*865A>G
ENST00000644895.1:c.*99+6476A>G	ENSP00000493872.1:n.*99+6476A>G
ENST00000645345.1:c.*1111A>G	ENSP00000495859.1:n.*1111A>G
ENST00000647524.1:c.*1122A>G	ENSP00000495077.1:n.*1122A>G
ENST00000373189.5:c.*111A>G	ENSP00000362285.5:n.*111A>G
NM_001174098.1:c.*768A>G	NP_001167569.1:n.*768A>G
NM_018344.5:c.*111A>G	NP_060814.4:n.*111A>G
NR_033413.1:n.1513A>G
NR_033414.1:n.1286A>G
XM_006717910.2:c.*111A>G	XP_006717973.1:n.*111A>G
NM_001363518.1:c.*111A>G	NP_001350447.1:n.*111A>G
XM_017016377.2:c.*111A>G	XP_016871866.1:n.*111A>G
XM_017016378.2:c.*111A>G	XP_016871867.1:n.*111A>G
NM_018344.6:c.*111A>G MANE Select	NP_060814.4:n.*111A>G
NM_001174098.2:c.*768A>G	NP_001167569.1:n.*768A>G
NM_001363518.2:c.*111A>G	NP_001350447.1:n.*111A>G
NR_033413.2:n.1507A>G
NR_033414.2:n.1280A>G