Canonical Allele Identifier: CA5543068

Gene: SLC29A3

Linked Data

• dbSNP Id: rs774906415
• ExAC: 10:73121794 T / C
• gnomAD v2: 10-73121794-T-C
• gnomAD v4: 10-71362037-T-C
• MyVariant Identifiers: chr10:g.73121794T>C (hg19) ; chr10:g.71362037T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362037T>C , CM000672.2:g.71362037T>C	GRCh38
NC_000010.10:g.73121794T>C , CM000672.1:g.73121794T>C	GRCh37
NC_000010.9:g.72791800T>C	NCBI36
NG_017066.1:g.47785T>C
NG_017066.2:g.47779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2333T>C
ENST00000373189.6:c.857T>C MANE Select	ENSP00000362285.5:p.Val286Ala
ENST00000479577.2:c.623T>C	ENSP00000493995.1:p.Val208Ala
ENST00000642198.1:c.*429T>C	ENSP00000494827.1:n.*429T>C
ENST00000642772.1:c.*94+5794T>C	ENSP00000495041.1:n.*94+5794T>C
ENST00000643042.1:c.478T>C	ENSP00000496674.1:n.478T>C
ENST00000643619.1:c.*440T>C	ENSP00000494378.1:n.*440T>C
ENST00000643752.1:c.*183T>C	ENSP00000495000.1:n.*183T>C
ENST00000644088.1:c.*178T>C	ENSP00000494066.1:n.*178T>C
ENST00000644591.1:c.*183T>C	ENSP00000496664.1:n.*183T>C
ENST00000644895.1:c.*99+5794T>C	ENSP00000493872.1:n.*99+5794T>C
ENST00000645345.1:c.*429T>C	ENSP00000495859.1:n.*429T>C
ENST00000647524.1:c.*440T>C	ENSP00000495077.1:n.*440T>C
ENST00000373189.5:c.857T>C	ENSP00000362285.5:p.Val286Ala
ENST00000469204.1:n.354T>C
NM_001174098.1:c.*86T>C	NP_001167569.1:n.*86T>C
NM_018344.5:c.857T>C	NP_060814.4:p.Val286Ala
NR_033413.1:n.831T>C
NR_033414.1:n.604T>C
XM_006717910.2:c.623T>C	XP_006717973.1:p.Val208Ala
NM_001363518.1:c.623T>C	NP_001350447.1:p.Val208Ala
XM_017016377.2:c.419T>C	XP_016871866.1:p.Val140Ala
XM_017016378.2:c.239T>C	XP_016871867.1:p.Val80Ala
NM_018344.6:c.857T>C MANE Select	NP_060814.4:p.Val286Ala
NM_001174098.2:c.*86T>C	NP_001167569.1:n.*86T>C
NM_001363518.2:c.623T>C	NP_001350447.1:p.Val208Ala
NR_033413.2:n.825T>C
NR_033414.2:n.598T>C