Canonical Allele Identifier: CA594705542

Gene: SLC29A3

Linked Data

• dbSNP Id: rs1193440272
• gnomAD v2: 10-73122475-G-C
• gnomAD v4: 10-71362718-G-C
• MyVariant Identifiers: chr10:g.73122475G>C (hg19) ; chr10:g.71362718G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362718G>C , CM000672.2:g.71362718G>C	GRCh38
NC_000010.10:g.73122475G>C , CM000672.1:g.73122475G>C	GRCh37
NC_000010.9:g.72792481G>C	NCBI36
NG_017066.1:g.48466G>C
NG_017066.2:g.48460G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.3014G>C
ENST00000373189.6:c.*110G>C MANE Select	ENSP00000362285.5:n.*110G>C
ENST00000479577.2:c.*110G>C	ENSP00000493995.1:n.*110G>C
ENST00000642198.1:c.*1110G>C	ENSP00000494827.1:n.*1110G>C
ENST00000642772.1:c.*94+6475G>C	ENSP00000495041.1:n.*94+6475G>C
ENST00000643042.1:c.1159G>C	ENSP00000496674.1:n.1159G>C
ENST00000643619.1:c.*1121G>C	ENSP00000494378.1:n.*1121G>C
ENST00000643752.1:c.*864G>C	ENSP00000495000.1:n.*864G>C
ENST00000644088.1:c.*859G>C	ENSP00000494066.1:n.*859G>C
ENST00000644591.1:c.*864G>C	ENSP00000496664.1:n.*864G>C
ENST00000644895.1:c.*99+6475G>C	ENSP00000493872.1:n.*99+6475G>C
ENST00000645345.1:c.*1110G>C	ENSP00000495859.1:n.*1110G>C
ENST00000647524.1:c.*1121G>C	ENSP00000495077.1:n.*1121G>C
ENST00000373189.5:c.*110G>C	ENSP00000362285.5:n.*110G>C
NM_001174098.1:c.*767G>C	NP_001167569.1:n.*767G>C
NM_018344.5:c.*110G>C	NP_060814.4:n.*110G>C
NR_033413.1:n.1512G>C
NR_033414.1:n.1285G>C
XM_006717910.2:c.*110G>C	XP_006717973.1:n.*110G>C
NM_001363518.1:c.*110G>C	NP_001350447.1:n.*110G>C
XM_017016377.2:c.*110G>C	XP_016871866.1:n.*110G>C
XM_017016378.2:c.*110G>C	XP_016871867.1:n.*110G>C
NM_018344.6:c.*110G>C MANE Select	NP_060814.4:n.*110G>C
NM_001174098.2:c.*767G>C	NP_001167569.1:n.*767G>C
NM_001363518.2:c.*110G>C	NP_001350447.1:n.*110G>C
NR_033413.2:n.1506G>C
NR_033414.2:n.1279G>C