Canonical Allele Identifier: CA209387905

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 2890191
• ClinVar RCV Id: RCV003646928
• dbSNP Id: rs1026895082
• gnomAD v3: 10-71362147-T-C
• gnomAD v4: 10-71362147-T-C
• MyVariant Identifiers: chr10:g.73121904T>C (hg19) ; chr10:g.71362147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362147T>C , CM000672.2:g.71362147T>C	GRCh38
NC_000010.10:g.73121904T>C , CM000672.1:g.73121904T>C	GRCh37
NC_000010.9:g.72791910T>C	NCBI36
NG_017066.1:g.47895T>C
NG_017066.2:g.47889T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2443T>C
ENST00000373189.6:c.967T>C MANE Select	ENSP00000362285.5:p.Tyr323His
ENST00000479577.2:c.733T>C	ENSP00000493995.1:p.Tyr245His
ENST00000642198.1:c.*539T>C	ENSP00000494827.1:n.*539T>C
ENST00000642772.1:c.*94+5904T>C	ENSP00000495041.1:n.*94+5904T>C
ENST00000643042.1:c.588T>C	ENSP00000496674.1:n.588T>C
ENST00000643619.1:c.*550T>C	ENSP00000494378.1:n.*550T>C
ENST00000643752.1:c.*293T>C	ENSP00000495000.1:n.*293T>C
ENST00000644088.1:c.*288T>C	ENSP00000494066.1:n.*288T>C
ENST00000644591.1:c.*293T>C	ENSP00000496664.1:n.*293T>C
ENST00000644895.1:c.*99+5904T>C	ENSP00000493872.1:n.*99+5904T>C
ENST00000645345.1:c.*539T>C	ENSP00000495859.1:n.*539T>C
ENST00000647524.1:c.*550T>C	ENSP00000495077.1:n.*550T>C
ENST00000373189.5:c.967T>C	ENSP00000362285.5:p.Tyr323His
ENST00000469204.1:n.464T>C
NM_001174098.1:c.*196T>C	NP_001167569.1:n.*196T>C
NM_018344.5:c.967T>C	NP_060814.4:p.Tyr323His
NR_033413.1:n.941T>C
NR_033414.1:n.714T>C
XM_006717910.2:c.733T>C	XP_006717973.1:p.Tyr245His
NM_001363518.1:c.733T>C	NP_001350447.1:p.Tyr245His
XM_017016377.2:c.529T>C	XP_016871866.1:p.Tyr177His
XM_017016378.2:c.349T>C	XP_016871867.1:p.Tyr117His
NM_018344.6:c.967T>C MANE Select	NP_060814.4:p.Tyr323His
NM_001174098.2:c.*196T>C	NP_001167569.1:n.*196T>C
NM_001363518.2:c.733T>C	NP_001350447.1:p.Tyr245His
NR_033413.2:n.935T>C
NR_033414.2:n.708T>C