Canonical Allele Identifier: CA5543211

Gene: SLC29A3

Linked Data

• dbSNP Id: rs751174589
• ExAC: 10:73122433 G / C
• gnomAD v2: 10-73122433-G-C
• gnomAD v3: 10-71362676-G-C
• gnomAD v4: 10-71362676-G-C
• MyVariant Identifiers: chr10:g.73122433G>C (hg19) ; chr10:g.71362676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362676G>C , CM000672.2:g.71362676G>C	GRCh38
NC_000010.10:g.73122433G>C , CM000672.1:g.73122433G>C	GRCh37
NC_000010.9:g.72792439G>C	NCBI36
NG_017066.1:g.48424G>C
NG_017066.2:g.48418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2972G>C
ENST00000373189.6:c.*68G>C MANE Select	ENSP00000362285.5:n.*68G>C
ENST00000479577.2:c.*68G>C	ENSP00000493995.1:n.*68G>C
ENST00000642198.1:c.*1068G>C	ENSP00000494827.1:n.*1068G>C
ENST00000642772.1:c.*94+6433G>C	ENSP00000495041.1:n.*94+6433G>C
ENST00000643042.1:c.1117G>C	ENSP00000496674.1:n.1117G>C
ENST00000643619.1:c.*1079G>C	ENSP00000494378.1:n.*1079G>C
ENST00000643752.1:c.*822G>C	ENSP00000495000.1:n.*822G>C
ENST00000644088.1:c.*817G>C	ENSP00000494066.1:n.*817G>C
ENST00000644591.1:c.*822G>C	ENSP00000496664.1:n.*822G>C
ENST00000644895.1:c.*99+6433G>C	ENSP00000493872.1:n.*99+6433G>C
ENST00000645345.1:c.*1068G>C	ENSP00000495859.1:n.*1068G>C
ENST00000647524.1:c.*1079G>C	ENSP00000495077.1:n.*1079G>C
ENST00000373189.5:c.*68G>C	ENSP00000362285.5:n.*68G>C
NM_001174098.1:c.*725G>C	NP_001167569.1:n.*725G>C
NM_018344.5:c.*68G>C	NP_060814.4:n.*68G>C
NR_033413.1:n.1470G>C
NR_033414.1:n.1243G>C
XM_006717910.2:c.*68G>C	XP_006717973.1:n.*68G>C
NM_001363518.1:c.*68G>C	NP_001350447.1:n.*68G>C
XM_017016377.2:c.*68G>C	XP_016871866.1:n.*68G>C
XM_017016378.2:c.*68G>C	XP_016871867.1:n.*68G>C
NM_018344.6:c.*68G>C MANE Select	NP_060814.4:n.*68G>C
NM_001174098.2:c.*725G>C	NP_001167569.1:n.*725G>C
NM_001363518.2:c.*68G>C	NP_001350447.1:n.*68G>C
NR_033413.2:n.1464G>C
NR_033414.2:n.1237G>C