Canonical Allele Identifier: CA377114657

Gene: SLC29A3

Linked Data

• gnomAD v4: 10-71362089-G-T
• MyVariant Identifiers: chr10:g.73121846G>T (hg19) ; chr10:g.71362089G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362089G>T , CM000672.2:g.71362089G>T	GRCh38
NC_000010.10:g.73121846G>T , CM000672.1:g.73121846G>T	GRCh37
NC_000010.9:g.72791852G>T	NCBI36
NG_017066.1:g.47837G>T
NG_017066.2:g.47831G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2385G>T
ENST00000373189.6:c.909G>T MANE Select	ENSP00000362285.5:p.Lys303Asn
ENST00000479577.2:c.675G>T	ENSP00000493995.1:p.Lys225Asn
ENST00000642198.1:c.*481G>T	ENSP00000494827.1:n.*481G>T
ENST00000642772.1:c.*94+5846G>T	ENSP00000495041.1:n.*94+5846G>T
ENST00000643042.1:c.530G>T	ENSP00000496674.1:n.530G>T
ENST00000643619.1:c.*492G>T	ENSP00000494378.1:n.*492G>T
ENST00000643752.1:c.*235G>T	ENSP00000495000.1:n.*235G>T
ENST00000644088.1:c.*230G>T	ENSP00000494066.1:n.*230G>T
ENST00000644591.1:c.*235G>T	ENSP00000496664.1:n.*235G>T
ENST00000644895.1:c.*99+5846G>T	ENSP00000493872.1:n.*99+5846G>T
ENST00000645345.1:c.*481G>T	ENSP00000495859.1:n.*481G>T
ENST00000647524.1:c.*492G>T	ENSP00000495077.1:n.*492G>T
ENST00000373189.5:c.909G>T	ENSP00000362285.5:p.Lys303Asn
ENST00000469204.1:n.406G>T
NM_001174098.1:c.*138G>T	NP_001167569.1:n.*138G>T
NM_018344.5:c.909G>T	NP_060814.4:p.Lys303Asn
NR_033413.1:n.883G>T
NR_033414.1:n.656G>T
XM_006717910.2:c.675G>T	XP_006717973.1:p.Lys225Asn
NM_001363518.1:c.675G>T	NP_001350447.1:p.Lys225Asn
XM_017016377.2:c.471G>T	XP_016871866.1:p.Lys157Asn
XM_017016378.2:c.291G>T	XP_016871867.1:p.Lys97Asn
NM_018344.6:c.909G>T MANE Select	NP_060814.4:p.Lys303Asn
NM_001174098.2:c.*138G>T	NP_001167569.1:n.*138G>T
NM_001363518.2:c.675G>T	NP_001350447.1:p.Lys225Asn
NR_033413.2:n.877G>T
NR_033414.2:n.650G>T