Canonical Allele Identifier: CA470281152

Gene: SLC29A3

Linked Data

• dbSNP Id: rs200725925
• gnomAD v3: 10-71362140-C-T
• gnomAD v4: 10-71362140-C-T
• MyVariant Identifiers: chr10:g.73121897C>T (hg19) ; chr10:g.71362140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362140C>T , CM000672.2:g.71362140C>T	GRCh38
NC_000010.10:g.73121897C>T , CM000672.1:g.73121897C>T	GRCh37
NC_000010.9:g.72791903C>T	NCBI36
NG_017066.1:g.47888C>T
NG_017066.2:g.47882C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2436C>T
ENST00000373189.6:c.960C>T MANE Select	ENSP00000362285.5:p.Ser320=
ENST00000479577.2:c.726C>T	ENSP00000493995.1:p.Ser242=
ENST00000642198.1:c.*532C>T	ENSP00000494827.1:n.*532C>T
ENST00000642772.1:c.*94+5897C>T	ENSP00000495041.1:n.*94+5897C>T
ENST00000643042.1:c.581C>T	ENSP00000496674.1:n.581C>T
ENST00000643619.1:c.*543C>T	ENSP00000494378.1:n.*543C>T
ENST00000643752.1:c.*286C>T	ENSP00000495000.1:n.*286C>T
ENST00000644088.1:c.*281C>T	ENSP00000494066.1:n.*281C>T
ENST00000644591.1:c.*286C>T	ENSP00000496664.1:n.*286C>T
ENST00000644895.1:c.*99+5897C>T	ENSP00000493872.1:n.*99+5897C>T
ENST00000645345.1:c.*532C>T	ENSP00000495859.1:n.*532C>T
ENST00000647524.1:c.*543C>T	ENSP00000495077.1:n.*543C>T
ENST00000373189.5:c.960C>T	ENSP00000362285.5:p.Ser320=
ENST00000469204.1:n.457C>T
NM_001174098.1:c.*189C>T	NP_001167569.1:n.*189C>T
NM_018344.5:c.960C>T	NP_060814.4:p.Ser320=
NR_033413.1:n.934C>T
NR_033414.1:n.707C>T
XM_006717910.2:c.726C>T	XP_006717973.1:p.Ser242=
NM_001363518.1:c.726C>T	NP_001350447.1:p.Ser242=
XM_017016377.2:c.522C>T	XP_016871866.1:p.Ser174=
XM_017016378.2:c.342C>T	XP_016871867.1:p.Ser114=
NM_018344.6:c.960C>T MANE Select	NP_060814.4:p.Ser320=
NM_001174098.2:c.*189C>T	NP_001167569.1:n.*189C>T
NM_001363518.2:c.726C>T	NP_001350447.1:p.Ser242=
NR_033413.2:n.928C>T
NR_033414.2:n.701C>T