Canonical Allele Identifier: CA377117522

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122292T>C (hg19) ; chr10:g.71362535T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362535T>C , CM000672.2:g.71362535T>C	GRCh38
NC_000010.10:g.73122292T>C , CM000672.1:g.73122292T>C	GRCh37
NC_000010.9:g.72792298T>C	NCBI36
NG_017066.1:g.48283T>C
NG_017066.2:g.48277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2831T>C
ENST00000373189.6:c.1355T>C MANE Select	ENSP00000362285.5:p.Val452Ala
ENST00000479577.2:c.1121T>C	ENSP00000493995.1:p.Val374Ala
ENST00000642198.1:c.*927T>C	ENSP00000494827.1:n.*927T>C
ENST00000642772.1:c.*94+6292T>C	ENSP00000495041.1:n.*94+6292T>C
ENST00000643042.1:c.976T>C	ENSP00000496674.1:n.976T>C
ENST00000643619.1:c.*938T>C	ENSP00000494378.1:n.*938T>C
ENST00000643752.1:c.*681T>C	ENSP00000495000.1:n.*681T>C
ENST00000644088.1:c.*676T>C	ENSP00000494066.1:n.*676T>C
ENST00000644591.1:c.*681T>C	ENSP00000496664.1:n.*681T>C
ENST00000644895.1:c.*99+6292T>C	ENSP00000493872.1:n.*99+6292T>C
ENST00000645345.1:c.*927T>C	ENSP00000495859.1:n.*927T>C
ENST00000647524.1:c.*938T>C	ENSP00000495077.1:n.*938T>C
ENST00000373189.5:c.1355T>C	ENSP00000362285.5:p.Val452Ala
NM_001174098.1:c.*584T>C	NP_001167569.1:n.*584T>C
NM_018344.5:c.1355T>C	NP_060814.4:p.Val452Ala
NR_033413.1:n.1329T>C
NR_033414.1:n.1102T>C
XM_006717910.2:c.1121T>C	XP_006717973.1:p.Val374Ala
NM_001363518.1:c.1121T>C	NP_001350447.1:p.Val374Ala
XM_017016377.2:c.917T>C	XP_016871866.1:p.Val306Ala
XM_017016378.2:c.737T>C	XP_016871867.1:p.Val246Ala
NM_018344.6:c.1355T>C MANE Select	NP_060814.4:p.Val452Ala
NM_001174098.2:c.*584T>C	NP_001167569.1:n.*584T>C
NM_001363518.2:c.1121T>C	NP_001350447.1:p.Val374Ala
NR_033413.2:n.1323T>C
NR_033414.2:n.1096T>C