Canonical Allele Identifier: CA209388310

Gene: SLC29A3

Linked Data

• dbSNP Id: rs554417867
• gnomAD v3: 10-71362553-G-C
• gnomAD v4: 10-71362553-G-C
• MyVariant Identifiers: chr10:g.73122310G>C (hg19) ; chr10:g.71362553G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362553G>C , CM000672.2:g.71362553G>C	GRCh38
NC_000010.10:g.73122310G>C , CM000672.1:g.73122310G>C	GRCh37
NC_000010.9:g.72792316G>C	NCBI36
NG_017066.1:g.48301G>C
NG_017066.2:g.48295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2849G>C
ENST00000373189.6:c.1373G>C MANE Select	ENSP00000362285.5:p.Cys458Ser
ENST00000479577.2:c.1139G>C	ENSP00000493995.1:p.Cys380Ser
ENST00000642198.1:c.*945G>C	ENSP00000494827.1:n.*945G>C
ENST00000642772.1:c.*94+6310G>C	ENSP00000495041.1:n.*94+6310G>C
ENST00000643042.1:c.994G>C	ENSP00000496674.1:n.994G>C
ENST00000643619.1:c.*956G>C	ENSP00000494378.1:n.*956G>C
ENST00000643752.1:c.*699G>C	ENSP00000495000.1:n.*699G>C
ENST00000644088.1:c.*694G>C	ENSP00000494066.1:n.*694G>C
ENST00000644591.1:c.*699G>C	ENSP00000496664.1:n.*699G>C
ENST00000644895.1:c.*99+6310G>C	ENSP00000493872.1:n.*99+6310G>C
ENST00000645345.1:c.*945G>C	ENSP00000495859.1:n.*945G>C
ENST00000647524.1:c.*956G>C	ENSP00000495077.1:n.*956G>C
ENST00000373189.5:c.1373G>C	ENSP00000362285.5:p.Cys458Ser
NM_001174098.1:c.*602G>C	NP_001167569.1:n.*602G>C
NM_018344.5:c.1373G>C	NP_060814.4:p.Cys458Ser
NR_033413.1:n.1347G>C
NR_033414.1:n.1120G>C
XM_006717910.2:c.1139G>C	XP_006717973.1:p.Cys380Ser
NM_001363518.1:c.1139G>C	NP_001350447.1:p.Cys380Ser
XM_017016377.2:c.935G>C	XP_016871866.1:p.Cys312Ser
XM_017016378.2:c.755G>C	XP_016871867.1:p.Cys252Ser
NM_018344.6:c.1373G>C MANE Select	NP_060814.4:p.Cys458Ser
NM_001174098.2:c.*602G>C	NP_001167569.1:n.*602G>C
NM_001363518.2:c.1139G>C	NP_001350447.1:p.Cys380Ser
NR_033413.2:n.1341G>C
NR_033414.2:n.1114G>C