Canonical Allele Identifier: CA377114568

Gene: SLC29A3

Linked Data

• dbSNP Id: rs2131851342
• MyVariant Identifiers: chr10:g.73121838A>C (hg19) ; chr10:g.71362081A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362081A>C , CM000672.2:g.71362081A>C	GRCh38
NC_000010.10:g.73121838A>C , CM000672.1:g.73121838A>C	GRCh37
NC_000010.9:g.72791844A>C	NCBI36
NG_017066.1:g.47829A>C
NG_017066.2:g.47823A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2377A>C
ENST00000373189.6:c.901A>C MANE Select	ENSP00000362285.5:p.Ile301Leu
ENST00000479577.2:c.667A>C	ENSP00000493995.1:p.Ile223Leu
ENST00000642198.1:c.*473A>C	ENSP00000494827.1:n.*473A>C
ENST00000642772.1:c.*94+5838A>C	ENSP00000495041.1:n.*94+5838A>C
ENST00000643042.1:c.522A>C	ENSP00000496674.1:n.522A>C
ENST00000643619.1:c.*484A>C	ENSP00000494378.1:n.*484A>C
ENST00000643752.1:c.*227A>C	ENSP00000495000.1:n.*227A>C
ENST00000644088.1:c.*222A>C	ENSP00000494066.1:n.*222A>C
ENST00000644591.1:c.*227A>C	ENSP00000496664.1:n.*227A>C
ENST00000644895.1:c.*99+5838A>C	ENSP00000493872.1:n.*99+5838A>C
ENST00000645345.1:c.*473A>C	ENSP00000495859.1:n.*473A>C
ENST00000647524.1:c.*484A>C	ENSP00000495077.1:n.*484A>C
ENST00000373189.5:c.901A>C	ENSP00000362285.5:p.Ile301Leu
ENST00000469204.1:n.398A>C
NM_001174098.1:c.*130A>C	NP_001167569.1:n.*130A>C
NM_018344.5:c.901A>C	NP_060814.4:p.Ile301Leu
NR_033413.1:n.875A>C
NR_033414.1:n.648A>C
XM_006717910.2:c.667A>C	XP_006717973.1:p.Ile223Leu
NM_001363518.1:c.667A>C	NP_001350447.1:p.Ile223Leu
XM_017016377.2:c.463A>C	XP_016871866.1:p.Ile155Leu
XM_017016378.2:c.283A>C	XP_016871867.1:p.Ile95Leu
NM_018344.6:c.901A>C MANE Select	NP_060814.4:p.Ile301Leu
NM_001174098.2:c.*130A>C	NP_001167569.1:n.*130A>C
NM_001363518.2:c.667A>C	NP_001350447.1:p.Ile223Leu
NR_033413.2:n.869A>C
NR_033414.2:n.642A>C