Canonical Allele Identifier: CA155234

Gene: SLC29A3

Linked Data

• ClinVar Variation Id: 130337
• ClinVar RCV Id: RCV001610422
• dbSNP Id: rs1084004
• ExAC: 10:73121945 T / C
• gnomAD v2: 10-73121945-T-C
• gnomAD v3: 10-71362188-T-C
• gnomAD v4: 10-71362188-T-C
• MyVariant Identifiers: chr10:g.73121945T>C (hg19) ; chr10:g.71362188T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362188T>C , CM000672.2:g.71362188T>C	GRCh38
NC_000010.10:g.73121945T>C , CM000672.1:g.73121945T>C	GRCh37
NC_000010.9:g.72791951T>C	NCBI36
NG_017066.1:g.47936T>C
NG_017066.2:g.47930T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697843.1:n.2484T>C
ENST00000373189.6:c.1008T>C MANE Select	ENSP00000362285.5:p.Gly336=
ENST00000479577.2:c.774T>C	ENSP00000493995.1:p.Gly258=
ENST00000642198.1:c.*580T>C	ENSP00000494827.1:n.*580T>C
ENST00000642772.1:c.*94+5945T>C	ENSP00000495041.1:n.*94+5945T>C
ENST00000643042.1:c.629T>C	ENSP00000496674.1:n.629T>C
ENST00000643619.1:c.*591T>C	ENSP00000494378.1:n.*591T>C
ENST00000643752.1:c.*334T>C	ENSP00000495000.1:n.*334T>C
ENST00000644088.1:c.*329T>C	ENSP00000494066.1:n.*329T>C
ENST00000644591.1:c.*334T>C	ENSP00000496664.1:n.*334T>C
ENST00000644895.1:c.*99+5945T>C	ENSP00000493872.1:n.*99+5945T>C
ENST00000645345.1:c.*580T>C	ENSP00000495859.1:n.*580T>C
ENST00000647524.1:c.*591T>C	ENSP00000495077.1:n.*591T>C
ENST00000373189.5:c.1008T>C	ENSP00000362285.5:p.Gly336=
ENST00000469204.1:n.505T>C
NM_001174098.1:c.*237T>C	NP_001167569.1:n.*237T>C
NM_018344.5:c.1008T>C	NP_060814.4:p.Gly336=
NR_033413.1:n.982T>C
NR_033414.1:n.755T>C
XM_006717910.2:c.774T>C	XP_006717973.1:p.Gly258=
NM_001363518.1:c.774T>C	NP_001350447.1:p.Gly258=
XM_017016377.2:c.570T>C	XP_016871866.1:p.Gly190=
XM_017016378.2:c.390T>C	XP_016871867.1:p.Gly130=
NM_018344.6:c.1008T>C MANE Select	NP_060814.4:p.Gly336=
NM_001174098.2:c.*237T>C	NP_001167569.1:n.*237T>C
NM_001363518.2:c.774T>C	NP_001350447.1:p.Gly258=
NR_033413.2:n.976T>C
NR_033414.2:n.749T>C