Canonical Allele Identifier: CA377117514

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122291G>C (hg19) ; chr10:g.71362534G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362534G>C , CM000672.2:g.71362534G>C	GRCh38
NC_000010.10:g.73122291G>C , CM000672.1:g.73122291G>C	GRCh37
NC_000010.9:g.72792297G>C	NCBI36
NG_017066.1:g.48282G>C
NG_017066.2:g.48276G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2830G>C
ENST00000373189.6:c.1354G>C MANE Select	ENSP00000362285.5:p.Val452Leu
ENST00000479577.2:c.1120G>C	ENSP00000493995.1:p.Val374Leu
ENST00000642198.1:c.*926G>C	ENSP00000494827.1:n.*926G>C
ENST00000642772.1:c.*94+6291G>C	ENSP00000495041.1:n.*94+6291G>C
ENST00000643042.1:c.975G>C	ENSP00000496674.1:n.975G>C
ENST00000643619.1:c.*937G>C	ENSP00000494378.1:n.*937G>C
ENST00000643752.1:c.*680G>C	ENSP00000495000.1:n.*680G>C
ENST00000644088.1:c.*675G>C	ENSP00000494066.1:n.*675G>C
ENST00000644591.1:c.*680G>C	ENSP00000496664.1:n.*680G>C
ENST00000644895.1:c.*99+6291G>C	ENSP00000493872.1:n.*99+6291G>C
ENST00000645345.1:c.*926G>C	ENSP00000495859.1:n.*926G>C
ENST00000647524.1:c.*937G>C	ENSP00000495077.1:n.*937G>C
ENST00000373189.5:c.1354G>C	ENSP00000362285.5:p.Val452Leu
NM_001174098.1:c.*583G>C	NP_001167569.1:n.*583G>C
NM_018344.5:c.1354G>C	NP_060814.4:p.Val452Leu
NR_033413.1:n.1328G>C
NR_033414.1:n.1101G>C
XM_006717910.2:c.1120G>C	XP_006717973.1:p.Val374Leu
NM_001363518.1:c.1120G>C	NP_001350447.1:p.Val374Leu
XM_017016377.2:c.916G>C	XP_016871866.1:p.Val306Leu
XM_017016378.2:c.736G>C	XP_016871867.1:p.Val246Leu
NM_018344.6:c.1354G>C MANE Select	NP_060814.4:p.Val452Leu
NM_001174098.2:c.*583G>C	NP_001167569.1:n.*583G>C
NM_001363518.2:c.1120G>C	NP_001350447.1:p.Val374Leu
NR_033413.2:n.1322G>C
NR_033414.2:n.1095G>C