Canonical Allele Identifier: CA470281477

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 3013069
• ClinVar RCV Id: RCV003870164
• gnomAD v4: 10-71362305-T-C
• MyVariant Identifiers: chr10:g.73122062T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362305T>C , CM000672.2:g.71362305T>C	GRCh38
NC_000010.10:g.73122062T>C , CM000672.1:g.73122062T>C	GRCh37
NC_000010.9:g.72792068T>C	NCBI36
NG_017066.1:g.48053T>C
NG_017066.2:g.48047T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2601T>C
ENST00000373189.6:c.1125T>C MANE Select	ENSP00000362285.5:p.Asn375=
ENST00000479577.2:c.891T>C	ENSP00000493995.1:p.Asn297=
ENST00000642198.1:c.*697T>C	ENSP00000494827.1:n.*697T>C
ENST00000642772.1:c.*94+6062T>C	ENSP00000495041.1:n.*94+6062T>C
ENST00000643042.1:c.746T>C	ENSP00000496674.1:n.746T>C
ENST00000643619.1:c.*708T>C	ENSP00000494378.1:n.*708T>C
ENST00000643752.1:c.*451T>C	ENSP00000495000.1:n.*451T>C
ENST00000644088.1:c.*446T>C	ENSP00000494066.1:n.*446T>C
ENST00000644591.1:c.*451T>C	ENSP00000496664.1:n.*451T>C
ENST00000644895.1:c.*99+6062T>C	ENSP00000493872.1:n.*99+6062T>C
ENST00000645345.1:c.*697T>C	ENSP00000495859.1:n.*697T>C
ENST00000647524.1:c.*708T>C	ENSP00000495077.1:n.*708T>C
ENST00000373189.5:c.1125T>C	ENSP00000362285.5:p.Asn375=
ENST00000469204.1:n.622T>C
NM_001174098.1:c.*354T>C	NP_001167569.1:n.*354T>C
NM_018344.5:c.1125T>C	NP_060814.4:p.Asn375=
NR_033413.1:n.1099T>C
NR_033414.1:n.872T>C
XM_006717910.2:c.891T>C	XP_006717973.1:p.Asn297=
NM_001363518.1:c.891T>C	NP_001350447.1:p.Asn297=
XM_017016377.2:c.687T>C	XP_016871866.1:p.Asn229=
XM_017016378.2:c.507T>C	XP_016871867.1:p.Asn169=
NM_018344.6:c.1125T>C MANE Select	NP_060814.4:p.Asn375=
NM_001174098.2:c.*354T>C	NP_001167569.1:n.*354T>C
NM_001363518.2:c.891T>C	NP_001350447.1:p.Asn297=
NR_033413.2:n.1093T>C
NR_033414.2:n.866T>C