Canonical Allele Identifier: CA377117143

Gene: SLC29A3

Linked Data

• MyVariant Identifiers: chr10:g.73122198C>A (hg19) ; chr10:g.71362441C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362441C>A , CM000672.2:g.71362441C>A	GRCh38
NC_000010.10:g.73122198C>A , CM000672.1:g.73122198C>A	GRCh37
NC_000010.9:g.72792204C>A	NCBI36
NG_017066.1:g.48189C>A
NG_017066.2:g.48183C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2737C>A
ENST00000373189.6:c.1261C>A MANE Select	ENSP00000362285.5:p.Leu421Met
ENST00000479577.2:c.1027C>A	ENSP00000493995.1:p.Leu343Met
ENST00000642198.1:c.*833C>A	ENSP00000494827.1:n.*833C>A
ENST00000642772.1:c.*94+6198C>A	ENSP00000495041.1:n.*94+6198C>A
ENST00000643042.1:c.882C>A	ENSP00000496674.1:n.882C>A
ENST00000643619.1:c.*844C>A	ENSP00000494378.1:n.*844C>A
ENST00000643752.1:c.*587C>A	ENSP00000495000.1:n.*587C>A
ENST00000644088.1:c.*582C>A	ENSP00000494066.1:n.*582C>A
ENST00000644591.1:c.*587C>A	ENSP00000496664.1:n.*587C>A
ENST00000644895.1:c.*99+6198C>A	ENSP00000493872.1:n.*99+6198C>A
ENST00000645345.1:c.*833C>A	ENSP00000495859.1:n.*833C>A
ENST00000647524.1:c.*844C>A	ENSP00000495077.1:n.*844C>A
ENST00000373189.5:c.1261C>A	ENSP00000362285.5:p.Leu421Met
ENST00000469204.1:n.758C>A
NM_001174098.1:c.*490C>A	NP_001167569.1:n.*490C>A
NM_018344.5:c.1261C>A	NP_060814.4:p.Leu421Met
NR_033413.1:n.1235C>A
NR_033414.1:n.1008C>A
XM_006717910.2:c.1027C>A	XP_006717973.1:p.Leu343Met
NM_001363518.1:c.1027C>A	NP_001350447.1:p.Leu343Met
XM_017016377.2:c.823C>A	XP_016871866.1:p.Leu275Met
XM_017016378.2:c.643C>A	XP_016871867.1:p.Leu215Met
NM_018344.6:c.1261C>A MANE Select	NP_060814.4:p.Leu421Met
NM_001174098.2:c.*490C>A	NP_001167569.1:n.*490C>A
NM_001363518.2:c.1027C>A	NP_001350447.1:p.Leu343Met
NR_033413.2:n.1229C>A
NR_033414.2:n.1002C>A